Gene review of 'ADULT syndrome'

DiseaseOntology · Apr 10, 2024 · 92a0ede · 92a0ede · csbjohnson · Apr 10, 2024
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commit 92a0ede
Showing 1 changed file with 1 addition and 1 deletion.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -22298,7 +22298,7 @@ SubClassOf(obo:DOID_0050600 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
 
 # Class: obo:DOID_0050601 (ADULT syndrome)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16114047/") obo:IAO_0000115 obo:DOID_0050601 "A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63."@en)
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16114047/") obo:IAO_0000115 obo:DOID_0050601 "A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28."@en)
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050601 "GARD:384")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050601 "OMIM:103285")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050601 "acro-dermato-ungual-lacrimal-tooth syndrome"@en)