Add 'childhood-onset neurodegeneration with brain atrophy'

Closes #1149
DiseaseOntology · Nov 9, 2023 · 7ce0c30 · 7ce0c30
1 parent 611d9e1
commit 7ce0c30
Showing 1 changed file with 22 additions and 0 deletions.
diff --git 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.")