Skip to content

Commit

Permalink
Add ovarian dysgenesis 10
Browse files Browse the repository at this point in the history
Issue #1409
  • Loading branch information
csbjohnson committed Nov 15, 2024
1 parent 9c8d1d8 commit e8dbd63
Showing 1 changed file with 13 additions and 1 deletion.
14 changes: 13 additions & 1 deletion src/ontology/doid-edit.owl
Original file line number Diff line number Diff line change
Expand Up @@ -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))
Expand Down Expand Up @@ -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)
Expand Down

0 comments on commit e8dbd63

Please sign in to comment.