Add 'chromosome 1p36.33 duplication syndrome' (DOID:0070470)

Related to issue #1152
DiseaseOntology · Oct 31, 2023 · c6fb517 · c6fb517
1 parent fa4a42d
commit c6fb517
Showing 1 changed file with 17 additions and 0 deletions.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -2363,6 +2363,7 @@ Declaration(Class(obo:DOID_0070466))
 Declaration(Class(obo:DOID_0070467))
 Declaration(Class(obo:DOID_0070468))
 Declaration(Class(obo:DOID_0070469))
+Declaration(Class(obo:DOID_0070470))
 Declaration(Class(obo:DOID_0070471))
 Declaration(Class(obo:DOID_0070472))
 Declaration(Class(obo:DOID_0070475))
@@ -46402,6 +46403,22 @@ AnnotationAssertion(rdfs:label obo:DOID_0070469 "neurodevelopmental disorder wit
 AnnotationAssertion(skos:exactMatch obo:DOID_0070469 "OMIM:619480")
 SubClassOf(obo:DOID_0070469 obo:DOID_0060307)
 
+# Class: obo:DOID_0070470 (chromosome 1p36.33 duplication syndrome)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32004445/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/33575671/") obo:IAO_0000115 obo:DOID_0070470 "A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3C genes, on chromosome 1p36.33 resulting in ATAD3A/ATAD3C gene fusion. Hypotonia, encephalopathy, seizures, and white matter abnormalities are also common.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070470 "OMIM:618815")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070470 "ORDO:656279")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070470 "UMLS_CUI:C5394150")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070470 "CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070470 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070470 "DOID:0070470")
+AnnotationAssertion(rdfs:label obo:DOID_0070470 "chromosome 1p36.33 duplication syndrome"@en)
+AnnotationAssertion(skos:exactMatch obo:DOID_0070470 "OMIM:618815")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070470 "ORDO:656279")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070470 "UMLS_CUI:C5394150")
+SubClassOf(obo:DOID_0070470 obo:DOID_0060429)
+SubClassOf(obo:DOID_0070470 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
 # Class: obo:DOID_0070471 (early-onset epilepsy 2)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31197650/") obo:IAO_0000115 obo:DOID_0070471 "An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.2.")