Add progeria (DOID:3911) xref

DiseaseOntology · Jan 16, 2024 · 7ce8f60 · 7ce8f60
1 parent 7858b75
commit 7ce8f60
Showing 1 changed file with 1 addition and 1 deletion.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -156234,7 +156234,7 @@ SubClassOf(obo:DOID_3910 ObjectSomeValuesFrom(obo:RO_0004026 obo:UBERON_0002048)
 
 # Class: obo:DOID_3911 (progeria)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12714972") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16838330") obo:IAO_0000115 obo:DOID_3911 "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.")
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12714972") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16838330") Annotation(oboInOwl:hasDbXref "url:https://www.genome.gov/Genetic-Disorders/Progeria") obo:IAO_0000115 obo:DOID_3911 "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3911 "GARD:7467")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3911 "ICD10CM:E34.8")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3911 "MEDDRA:10036794")