Skip to content

Commit 5ee4237

Browse files
committed
Update familial isolated hypoparathyroidism axioms
#1493
1 parent ba06254 commit 5ee4237

File tree

1 file changed

+2
-3
lines changed

1 file changed

+2
-3
lines changed

src/ontology/doid-edit.owl

Lines changed: 2 additions & 3 deletions
Original file line numberDiff line numberDiff line change
@@ -44270,7 +44270,7 @@ SubClassOf(obo:DOID_0061150 obo:DOID_0111387)
4427044270

4427144271
# Class: obo:DOID_0061151 (familial isolated hypoparathyroidism 2)
4427244272

44273-
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15728199/") obo:IAO_0000115 obo:DOID_0061151 "A familial isolated hypoparathyroidism that has_material_basis_in homozygous mutation in the glial cells missing transcription factor-2 GCM2 gene on chromosome 6p24.")
44273+
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15728199/") obo:IAO_0000115 obo:DOID_0061151 "A familial isolated hypoparathyroidism that has_material_basis_in homozygous mutation in the glial cells missing transcription factor-2 GCM2 gene on chromosome 6p24. Some patients have been reported with heterozygous mutations in the GCM2 gene.")
4427444274
AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061151 "FIH2")
4427544275
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061151 "disease_ontology")
4427644276
AnnotationAssertion(oboInOwl:id obo:DOID_0061151 "DOID:0061151")
@@ -90544,8 +90544,7 @@ AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0111387 "disease_ontology"
9054490544
AnnotationAssertion(oboInOwl:id obo:DOID_0111387 "DOID:0111387")
9054590545
AnnotationAssertion(rdfs:label obo:DOID_0111387 "familial isolated hypoparathyroidism")
9054690546
SubClassOf(obo:DOID_0111387 obo:DOID_11199)
90547-
SubClassOf(obo:DOID_0111387 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
90548-
SubClassOf(obo:DOID_0111387 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
90547+
SubClassOf(obo:DOID_0111387 ObjectUnionOf(obo:GENO_0000147 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148)))
9054990548

9055090549
# Class: obo:DOID_0111388 (X-linked hypoparathyroidism)
9055190550

0 commit comments

Comments
 (0)