Skip to content

Commit c49e071

Browse files
committed
Add autosomal recessive nonsyndromic deafness 125
1 parent 6045b6a commit c49e071

File tree

1 file changed

+12
-0
lines changed

1 file changed

+12
-0
lines changed

src/ontology/doid-edit.owl

Lines changed: 12 additions & 0 deletions
Original file line numberDiff line numberDiff line change
@@ -2154,6 +2154,7 @@ Declaration(Class(obo:DOID_0061120))
21542154
Declaration(Class(obo:DOID_0061121))
21552155
Declaration(Class(obo:DOID_0061122))
21562156
Declaration(Class(obo:DOID_0061123))
2157+
Declaration(Class(obo:DOID_0061124))
21572158
Declaration(Class(obo:DOID_0070000))
21582159
Declaration(Class(obo:DOID_0070001))
21592160
Declaration(Class(obo:DOID_0070002))
@@ -43880,6 +43881,17 @@ AnnotationAssertion(rdfs:label obo:DOID_0061123 "visceral heterotaxy 14")
4388043881
SubClassOf(obo:DOID_0061123 obo:DOID_0050545)
4388143882
SubClassOf(obo:DOID_0061123 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
4388243883

43884+
# Class: obo:DOID_0061124 (autosomal recessive nonsyndromic deafness 125)
43885+
43886+
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/33964205/") Annotation(rdfs:comment "Only 1 family has been reported as of 4/17/2025") obo:IAO_0000115 obo:DOID_0061124 "An autosomal recessive nonsyndromic deafness characterized by congenital nonsyndromic sensorineural hearing loss hat has_material_basis_in homozygous mutation in the GAS2 gene on chromosome 11p14.")
43887+
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061124 "MIM:620877")
43888+
AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061124 "DFNB125")
43889+
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061124 "autosomal recessive deafness 125")
43890+
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061124 "disease_ontology")
43891+
AnnotationAssertion(oboInOwl:id obo:DOID_0061124 "DOID:0061124")
43892+
AnnotationAssertion(rdfs:label obo:DOID_0061124 "autosomal recessive nonsyndromic deafness 125")
43893+
SubClassOf(obo:DOID_0061124 obo:DOID_0050565)
43894+
4388343895
# Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)
4388443896

4388543897
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.")

0 commit comments

Comments
 (0)