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Summary Literature (0)
DOID:0080237 - autosomal dominant intellectual developmental disorder 46


Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14.

Synonyms: autosomal dominant mental retardation 46,

Xenbase Genes : kcnq5

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


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

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