Skip to content

Commit 01c8eaa

Browse files
committed
Add neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
1 parent 950bf27 commit 01c8eaa

File tree

1 file changed

+10
-0
lines changed

1 file changed

+10
-0
lines changed

src/ontology/doid-edit.owl

Lines changed: 10 additions & 0 deletions
Original file line numberDiff line numberDiff line change
@@ -2295,6 +2295,7 @@ Declaration(Class(obo:DOID_0061249))
22952295
Declaration(Class(obo:DOID_0061250))
22962296
Declaration(Class(obo:DOID_0061251))
22972297
Declaration(Class(obo:DOID_0061252))
2298+
Declaration(Class(obo:DOID_0061253))
22982299
Declaration(Class(obo:DOID_0070000))
22992300
Declaration(Class(obo:DOID_0070001))
23002301
Declaration(Class(obo:DOID_0070002))
@@ -45048,6 +45049,15 @@ AnnotationAssertion(rdfs:label obo:DOID_0061252 "neurodevelopmental disorder wit
4504845049
SubClassOf(obo:DOID_0061252 obo:DOID_0060308)
4504945050
SubClassOf(obo:DOID_0061252 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
4505045051

45052+
# Class: obo:DOID_0061253 (neurodevelopmental disorder with speech delay, movement abnormalities, and seizures)
45053+
45054+
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/41125872/") obo:IAO_0000115 obo:DOID_0061253 "An autosomal dominant intellectual developmental disorder characterized by motor delay with mildly delayed walking, variably impaired intellectual development with poor or absent speech, behavioral abnormalities, early-onset seizures, and movement abnormalities, including tremor, ataxia, and dyskinesias that has_material_basis_in heterozygous mutation in the UNC13A gene on chromosome 19p13.")
45055+
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061253 "MIM:621456")
45056+
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061253 "disease_ontology")
45057+
AnnotationAssertion(oboInOwl:id obo:DOID_0061253 "DOID:0061253")
45058+
AnnotationAssertion(rdfs:label obo:DOID_0061253 "neurodevelopmental disorder with speech delay, movement abnormalities, and seizures")
45059+
SubClassOf(obo:DOID_0061253 obo:DOID_0060307)
45060+
4505145061
# Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)
4505245062

4505345063
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)