Add Duane retraction syndrome 2

#1148
DiseaseOntology · Jan 16, 2025 · 3ad1a76 · 3ad1a76
1 parent b50e354
commit 3ad1a76
Showing 1 changed file with 13 additions and 2 deletions.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -2017,6 +2017,7 @@ Declaration(Class(obo:DOID_0061024))
 Declaration(Class(obo:DOID_0061025))
 Declaration(Class(obo:DOID_0061026))
 Declaration(Class(obo:DOID_0061027))
+Declaration(Class(obo:DOID_0061028))
 Declaration(Class(obo:DOID_0070000))
 Declaration(Class(obo:DOID_0070001))
 Declaration(Class(obo:DOID_0070002))
@@ -42246,13 +42247,24 @@ SubClassOf(obo:DOID_0061026 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10577917/") obo:IAO_0000115 obo:DOID_0061027 "A Duane retraction syndrome that has_material_basis_in loci that maps to chromosome 8q13.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061027 "MIM:126800")
+AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061027 "DURS1")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061027 "disease_ontology")
-AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasRelatedSynonym obo:DOID_0061027 "DURS1")
 AnnotationAssertion(oboInOwl:id obo:DOID_0061027 "DOID:0061027")
 AnnotationAssertion(rdfs:label obo:DOID_0061027 "Duane retraction syndrome 1"@en)
 SubClassOf(obo:DOID_0061027 obo:DOID_12557)
 SubClassOf(obo:DOID_0061027 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
 
+# Class: obo:DOID_0061028 (Duane retraction syndrome 2)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20034095/") obo:IAO_0000115 obo:DOID_0061028 "A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the CHN1 gene on chromosome 2q31.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061028 "MIM:604356")
+AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061028 "DURS2")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061028 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061028 "DOID:0061028")
+AnnotationAssertion(rdfs:label obo:DOID_0061028 "Duane retraction syndrome 2"@en)
+SubClassOf(obo:DOID_0061028 obo:DOID_12557)
+SubClassOf(obo:DOID_0061028 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
 # 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.")
@@ -122190,7 +122202,6 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12557 "ICD10CM:H50.81")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12557 "ICD9CM:378.71")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12557 "MESH:D004370")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12557 "MIM:126800")
-AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12557 "MIM:604356")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12557 "NCI:C84678")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12557 "ORDO:233")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12557 "SNOMEDCT_US_2023_03_01:60318001")