Add neurodevelopmental disorder with hypotonia, epilepsy, and absent speech

Author: csbjohnson

src/ontology/doid-edit.owl

@@ -2294,6 +2294,7 @@ Declaration(Class(obo:DOID_0061248))
 Declaration(Class(obo:DOID_0061249))
 Declaration(Class(obo:DOID_0061250))
 Declaration(Class(obo:DOID_0061251))
+Declaration(Class(obo:DOID_0061252))
 Declaration(Class(obo:DOID_0070000))
 Declaration(Class(obo:DOID_0070001))
 Declaration(Class(obo:DOID_0070002))
@@ -45037,6 +45038,16 @@ AnnotationAssertion(rdfs:label obo:DOID_0061251 "Charcot-Marie-Tooth disease typ
 SubClassOf(obo:DOID_0061251 obo:DOID_0050539)
 SubClassOf(obo:DOID_0061251 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
+# Class: obo:DOID_0061252 (neurodevelopmental disorder with hypotonia, epilepsy, and absent speech)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/41125872/") obo:IAO_0000115 obo:DOID_0061252 "An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia, profoundly impaired motor and cognitive development, absent speech, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the UNC13A gene on chromosome 19p13.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061252 "MIM:621455")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061252 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061252 "DOID:0061252")
+AnnotationAssertion(rdfs:label obo:DOID_0061252 "neurodevelopmental disorder with hypotonia, epilepsy, and absent speech")
+SubClassOf(obo:DOID_0061252 obo:DOID_0060308)
+SubClassOf(obo:DOID_0061252 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
 # 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.")