autosomal dominant intellectual developmental disorder 51

Summary

DOID:0080232 - autosomal dominant intellectual developmental disorder 51

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13.

Synonyms: autosomal dominant mental retardation 51

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: kmt5b

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0030917 - intellectual disability, autosomal dominant 51

MONDO:0030917 - intellectual disability, autosomal dominant 51

MIM:

MIM:617788 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 51; MRD51

MIM:617788 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 51; MRD51

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant intellectual developmental disorder (is_a)