Add ovarian dysgenesis 9

Issue #1409
DiseaseOntology · Nov 15, 2024 · 9c8d1d8 · 9c8d1d8
1 parent 41e8bc7
commit 9c8d1d8
Showing 1 changed file with 13 additions and 1 deletion.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -1989,6 +1989,7 @@ Declaration(Class(obo:DOID_0061009))
 Declaration(Class(obo:DOID_0061010))
 Declaration(Class(obo:DOID_0061011))
 Declaration(Class(obo:DOID_0061012))
+Declaration(Class(obo:DOID_0061013))
 Declaration(Class(obo:DOID_0070000))
 Declaration(Class(obo:DOID_0070001))
 Declaration(Class(obo:DOID_0070002))
@@ -41872,8 +41873,8 @@ SubClassOf(obo:DOID_0061005 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31138685/") obo:IAO_0000115 obo:DOID_0061006 "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the TIMELESS gene on chromosome 12q13."@en)
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061006 "MIM:620015")
-AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061006 "familial advanced sleep phase syndrome 4"@en)
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061006 "FASPS4")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061006 "familial advanced sleep phase syndrome 4"@en)
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061006 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0061006 "DOID:0061006")
 AnnotationAssertion(rdfs:label obo:DOID_0061006 "advanced sleep phase syndrome 4"@en)
@@ -41952,6 +41953,17 @@ AnnotationAssertion(rdfs:label obo:DOID_0061012 "craniosynostosis 4"@en)
 SubClassOf(obo:DOID_0061012 obo:DOID_2340)
 SubClassOf(obo:DOID_0061012 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
 
+# Class: obo:DOID_0061013 (ovarian dysgenesis 9)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/34697795/") obo:IAO_0000115 obo:DOID_0061013 "A 46 XX gonadal dysgenesis characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age that has_material_basis_in homozygous mutation in the SPIDR gene on chromosome 8q11."@en)
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061013 "MIM:619665")
+AnnotationAssertion(Annotation(rdfs:comment obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061013 "ODG9")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061013 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061013 "DOID:0061013")
+AnnotationAssertion(rdfs:label obo:DOID_0061013 "ovarian dysgenesis 9"@en)
+SubClassOf(obo:DOID_0061013 obo:DOID_14450)
+SubClassOf(obo:DOID_0061013 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
 # 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)