From e8dbd635beb6c2c9fa68a73521a36e6b24aaab35 Mon Sep 17 00:00:00 2001 From: csbjohnson Date: Fri, 15 Nov 2024 11:45:40 -0500 Subject: [PATCH] Add ovarian dysgenesis 10 Issue #1409 --- src/ontology/doid-edit.owl | 14 +++++++++++++- 1 file changed, 13 insertions(+), 1 deletion(-) diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index 72b40827..0e8eb074 100644 --- a/src/ontology/doid-edit.owl +++ b/src/ontology/doid-edit.owl @@ -1990,6 +1990,7 @@ Declaration(Class(obo:DOID_0061010)) Declaration(Class(obo:DOID_0061011)) Declaration(Class(obo:DOID_0061012)) Declaration(Class(obo:DOID_0061013)) +Declaration(Class(obo:DOID_0061014)) Declaration(Class(obo:DOID_0070000)) Declaration(Class(obo:DOID_0070001)) Declaration(Class(obo:DOID_0070002)) @@ -41957,13 +41958,24 @@ SubClassOf(obo:DOID_0061012 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014 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(Annotation(rdfs:comment obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061013 "ODG9"@en) 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_0061014 (ovarian dysgenesis 10) + +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/34402903/") obo:IAO_0000115 obo:DOID_0061014 "A 46 XX gonadal dysgenesis characterized by primary amenorrhea and absent puberty that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12."@en) +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061014 "MIM:619834") +AnnotationAssertion(Annotation(rdfs:comment obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061014 "ODG10"@en) +AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061014 "disease_ontology") +AnnotationAssertion(oboInOwl:id obo:DOID_0061014 "DOID:0061014") +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_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)