added neurodegenerative disorder with cerebellar and caudate atrophy

Author: lschriml

src/ontology/doid-edit.owl

@@ -1130,6 +1130,7 @@ Declaration(Class(obo:DOID_0051068))
 Declaration(Class(obo:DOID_0051069))
 Declaration(Class(obo:DOID_0051070))
 Declaration(Class(obo:DOID_0051071))
+Declaration(Class(obo:DOID_0051072))
 Declaration(Class(obo:DOID_0060000))
 Declaration(Class(obo:DOID_0060001))
 Declaration(Class(obo:DOID_0060002))
@@ -28917,12 +28918,21 @@ SubClassOf(obo:DOID_0051070 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
 
 AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/41643666/") obo:IAO_0000115 obo:DOID_0051071 "An autosomal recessive intellectual developmental disorder that is characterized by intellectual disability, developmental delay, seizures, hypotonia, microcephaly, and dysmorphic features and that has_material_basis_in homozygous or compound heterozygous mutation in the JKAMP gene on chromosome 14q23.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051071 "MIM:621533")
-AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0051071 "NEDSIL")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051071 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0051071 "DOID:0051071")
 AnnotationAssertion(rdfs:label obo:DOID_0051071 "neurodevelopmental disorder with seizures and impaired intellectual and language development")
 SubClassOf(obo:DOID_0051071 obo:DOID_0060308)
 
+# Class: obo:DOID_0051072 (neurodegenerative disorder with cerebellar and caudate atrophy)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/41349538/") obo:IAO_0000115 obo:DOID_0051072 "An autosomal dominant intellectual developmental disorder that is characterized by neurodegenerative features, including progressive ataxia, cognitive decline, and neuropathy, and a distinctive neuroradiologic phenotype with cerebellar and caudate atrophy and basal ganglia signal abnormalities and that has_material_basis_in heterozygous complex chromosome 16p13.3 rearrangement comprising a duplication with an embedded triplication involving at least the ATP6V0C gene.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051072 "MIM:621525")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0051072 "NDCCA")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051072 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0051072 "DOID:0051072")
+AnnotationAssertion(rdfs:label obo:DOID_0051072 "neurodegenerative disorder with cerebellar and caudate atrophy")
+SubClassOf(obo:DOID_0051072 obo:DOID_0060307)
+
 # Class: obo:DOID_0060000 (infective endocarditis)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Endocarditis") Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Infective_endocarditis") obo:IAO_0000115 obo:DOID_0060000 "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.")