autosomal dominant non-syndromic intellectual disability 19

Summary

DOID:0070049 - autosomal dominant non-syndromic intellectual disability 19

Disease Ontology Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CTNNB1 on chromosome 3p22.1.

Synonyms: MRD19, autosomal dominant mental retardation 19

In Mondo Disease Ontology:

MONDO:0014035 - severe intellectual disability-progressive spastic diplegia syndrome

MONDO:0014035 - severe intellectual disability-progressive spastic diplegia syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

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

: ctnnb1

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

Parent(s): autosomal dominant non-syndromic intellectual disability (is_a)