autosomal dominant intellectual developmental disorder 54

Summary

DOID:0080230 - autosomal dominant intellectual developmental disorder 54

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13.

Synonyms: autosomal dominant mental retardation 54

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

: camk2b

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0030920 - intellectual disability, autosomal dominant 54

MONDO:0030920 - intellectual disability, autosomal dominant 54

MIM:

MIM:617799 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 54; MRD54

MIM:617799 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 54; MRD54

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)