autosomal dominant intellectual developmental disorder 53

Summary

DOID:0080228 - autosomal dominant intellectual developmental disorder 53

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32.

Synonyms: autosomal dominant mental retardation 53

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

: camk2a

MIM:

MIM:617798 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 53; MRD53

MIM:617798 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 53; MRD53

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)