Add Female-restricted Wieacker-Wolff syndrome

Issue #1401
DiseaseOntology · Dec 2, 2024 · 881fa4b · 881fa4b
1 parent 3571f45
commit 881fa4b
Showing 1 changed file with 13 additions and 1 deletion.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -1991,6 +1991,7 @@ Declaration(Class(obo:DOID_0061011))
 Declaration(Class(obo:DOID_0061012))
 Declaration(Class(obo:DOID_0061013))
 Declaration(Class(obo:DOID_0061014))
+Declaration(Class(obo:DOID_0061015))
 Declaration(Class(obo:DOID_0070000))
 Declaration(Class(obo:DOID_0070001))
 Declaration(Class(obo:DOID_0070002))
@@ -39431,10 +39432,10 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060815 "UMLS_CUI:C1839735")
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0060815 "MCS"@en)
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0060815 "MRXS4"@en)
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060815 "Miles-Carpenter syndrome")
+AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0060815 "WRWF")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060815 "X-linked intellectual disability, Miles-Carpenter type"@en)
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060815 "mental retardation, X-linked, syndromic 4"@en)
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060815 "mental retardation, X-linked, with congenital contractures and low fingertip arches"@en)
-AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0060815 "WRWF")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060815 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0060815 "DOID:0060815")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_0060815 doid:DO_rare_slim)
@@ -41992,6 +41993,17 @@ AnnotationAssertion(rdfs:label obo:DOID_0061014 "ovarian dysgenesis 10"@en)
 SubClassOf(obo:DOID_0061014 obo:DOID_14450)
 SubClassOf(obo:DOID_0061014 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
+# Class: obo:DOID_0061015 (Female-restricted Wieacker-Wolff syndrome)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31206972/") obo:IAO_0000115 obo:DOID_0061015 "A syndromic X-linked intellectual disability that has_material_basis_in heterozygous mutation in the ZC4H2 gene on chromosome Xq11."@en)
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061015 "MIM:301041")
+AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061015 "WRWFFR"@en)
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061015 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061015 "DOID:0061015")
+AnnotationAssertion(rdfs:label obo:DOID_0061015 "Female-restricted Wieacker-Wolff syndrome"@en)
+SubClassOf(obo:DOID_0061015 obo:DOID_0060309)
+SubClassOf(obo:DOID_0061015 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000146))
+
 # Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27208207") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27696117") obo:IAO_0000115 obo:DOID_0070000 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13."@en)