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Summary Literature (0)
DOID:0080237 - autosomal dominant mental retardation 46


Disease Ontology Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14.

Synonyms:

Xenbase Genes : kcnq5

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0030911 - intellectual disability, autosomal dominant 46

OMIM:
OMIM:617601 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 46; MRD46

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)