diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index d40cc7e9e..46c13b62b 100644 --- a/src/ontology/doid-edit.owl +++ b/src/ontology/doid-edit.owl @@ -2367,6 +2367,7 @@ Declaration(Class(obo:DOID_0070470)) Declaration(Class(obo:DOID_0070471)) Declaration(Class(obo:DOID_0070472)) Declaration(Class(obo:DOID_0070473)) +Declaration(Class(obo:DOID_0070474)) Declaration(Class(obo:DOID_0070475)) Declaration(Class(obo:DOID_0070476)) Declaration(Class(obo:DOID_0070477)) @@ -46461,6 +46462,27 @@ AnnotationAssertion(skos:exactMatch obo:DOID_0070473 "OMIM:619648") SubClassOf(obo:DOID_0070473 obo:DOID_4) SubClassOf(obo:DOID_0070473 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148)) +# Class: obo:DOID_0070474 (childhood-onset neurodegeneration with brain atrophy) + +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28777933/") obo:IAO_0000115 obo:DOID_0070474 "A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31.") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070474 "OMIM:617672") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070474 "ORDO:500180") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070474 "SNOMEDCT_US_2023_03_01:1167373005") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070474 "UMLS_CUI:C4540086") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070474 "UMLS_CUI:C5567227") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070474 "CONDBA") +AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070474 "disease_ontology") +AnnotationAssertion(oboInOwl:id obo:DOID_0070474 "DOID:0070474") +AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070474 doid:DO_rare_slim) +AnnotationAssertion(rdfs:label obo:DOID_0070474 "childhood-onset neurodegeneration with brain atrophy"@en) +AnnotationAssertion(skos:exactMatch obo:DOID_0070474 "OMIM:617672") +AnnotationAssertion(skos:exactMatch obo:DOID_0070474 "ORDO:500180") +AnnotationAssertion(skos:exactMatch obo:DOID_0070474 "SNOMEDCT_US_2023_03_01:1167373005") +AnnotationAssertion(skos:exactMatch obo:DOID_0070474 "UMLS_CUI:C4540086") +AnnotationAssertion(skos:exactMatch obo:DOID_0070474 "UMLS_CUI:C5567227") +SubClassOf(obo:DOID_0070474 obo:DOID_1289) +SubClassOf(obo:DOID_0070474 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147)) + # Class: obo:DOID_0070475 (renal medullary carcinoma) AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28697319/") obo:IAO_0000115 obo:DOID_0070475 "A renal cell carcinoma that develops in the renal medulla.")