autosomal dominant intellectual developmental disorder 19

Summary

DOID:0070049 - autosomal dominant intellectual developmental disorder 19

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1.

Synonyms: autosomal dominant mental retardation 19, autosomal dominant non-syndromic intellectual disability 19, MRD19

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

Mondo Disease Ontology (on Monarch Initiative):

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

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

MIM:

MIM:615075 - NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS; NEDSDV

MIM:615075 - NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS; NEDSDV

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)