Update inheritance of congenital nongoitrous hypothyroidism 3

Issue #1090
DiseaseOntology · Dec 23, 2024 · 75aee4c · 75aee4c
1 parent 9577593
commit 75aee4c
Showing 1 changed file with 1 addition and 1 deletion.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -43749,7 +43749,7 @@ SubClassOf(obo:DOID_0070126 ObjectSomeValuesFrom(obo:RO_0004019 obo:HP_0001197))
 
 # Class: obo:DOID_0070127 (congenital nongoitrous hypothyroidism 3)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15870119") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8976668") obo:IAO_0000115 obo:DOID_0070127 "A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in variation in the chromosome region 15q25.3-q26.1."@en)
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15870119") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8976668") obo:IAO_0000115 obo:DOID_0070127 "A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in heterozygous mutation in a thyroid-specific TTTG(4) intergenic noncoding short tandem repeat (STR) on chromosome 15q25.1."@en)
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070127 "ICD10CM:E03.1")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070127 "MIM:609893")
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0070127 "CHNG3"@en)