Add autosomal recessive intellectual developmental disorder 83

Author: csbjohnson

src/ontology/doid-edit.owl

@@ -2144,6 +2144,7 @@ Declaration(Class(obo:DOID_0061110))
 Declaration(Class(obo:DOID_0061111))
 Declaration(Class(obo:DOID_0061112))
 Declaration(Class(obo:DOID_0061113))
+Declaration(Class(obo:DOID_0061114))
 Declaration(Class(obo:DOID_0070000))
 Declaration(Class(obo:DOID_0070001))
 Declaration(Class(obo:DOID_0070002))
@@ -43746,6 +43747,16 @@ SubClassOf(obo:DOID_0061113 obo:DOID_10584)
 SubClassOf(obo:DOID_0061113 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 SubClassOf(obo:DOID_0061113 ObjectSomeValuesFrom(obo:IDO_0000664 obo:HP_0011462))
 
+# Class: obo:DOID_0061114 (autosomal recessive intellectual developmental disorder 83)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/39824192/") obo:IAO_0000115 obo:DOID_0061114 "An autosomal recessive intellectual developmental disorder characterized by global developmental delay with mildly delayed walking (by a few years), mild to moderate intellectual disability, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the KICS2 gene on chromosome 12q14.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061114 "MIM:621100")
+AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061114 "MRT83")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061114 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061114 "DOID:0061114")
+AnnotationAssertion(rdfs:label obo:DOID_0061114 "autosomal recessive intellectual developmental disorder 83")
+SubClassOf(obo:DOID_0061114 obo:DOID_0060308)
+
 # 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.")
@@ -108912,13 +108923,13 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_10584 "GARD:5694")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_10584 "ICD10CM:H35.52")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_10584 "MESH:C538365")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_10584 "MESH:D012174")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_10584 "MIM:268000")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_10584 "MIM:PS268000")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_10584 "NCI:C85045")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_10584 "ORDO:791")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_10584 "SNOMEDCT_US_2023_03_01:155113002")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_10584 "UMLS_CUI:C0035334")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_10584 "UMLS_CUI:C0220701")
-AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_10584 "MIM:268000")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_10584 "pericentral pigmentary retinopathy")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_10584 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_10584 "DOID:10584")