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Summary Literature (0)
DOID:0080230 - autosomal dominant mental retardation 54


Disease Ontology Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13.

Synonyms:

Xenbase Genes : camk2b

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0030920 - intellectual disability, autosomal dominant 54

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

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant non-syndromic intellectual disability (is_a)