autosomal dominant intellectual developmental disorder 46

Summary

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 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

: kcnq5

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0030911 - intellectual disability, autosomal dominant 46

MONDO:0030911 - intellectual disability, autosomal dominant 46

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)