Add 'Zaki syndrome' (DOID:0070473)

Closes #1254
DiseaseOntology · Oct 31, 2023 · a3c1829 · a3c1829
1 parent c6fb517
commit a3c1829
Showing 1 changed file with 13 additions and 0 deletions.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -2366,6 +2366,7 @@ Declaration(Class(obo:DOID_0070469))
 Declaration(Class(obo:DOID_0070470))
 Declaration(Class(obo:DOID_0070471))
 Declaration(Class(obo:DOID_0070472))
+Declaration(Class(obo:DOID_0070473))
 Declaration(Class(obo:DOID_0070475))
 Declaration(Class(obo:DOID_0070476))
 Declaration(Class(obo:DOID_0070477))
@@ -46445,6 +46446,18 @@ SubClassOf(obo:DOID_0070472 obo:DOID_1826)
 SubClassOf(obo:DOID_0070472 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
 SubClassOf(obo:DOID_0070472 ObjectSomeValuesFrom(obo:RO_0002488 ObjectUnionOf(obo:HP_0003593 obo:HP_0011463)))
 
+# Class: obo:DOID_0070473 (Zaki syndrome)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/34587386/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/37005218/") obo:IAO_0000115 obo:DOID_0070473 "A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the WLS gene on chromosome 1p31.3. Additional variable features may include ocular, skeletal, cardiac, and renal anomalies.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070473 "OMIM:619648")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070473 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070473 "DOID:0070470")
+AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070473 doid:DO_rare_slim)
+AnnotationAssertion(rdfs:label obo:DOID_0070473 "Zaki syndrome"@en)
+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_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.")