autosomal dominant intellectual developmental disorder 42

Summary

DOID:0070072 - autosomal dominant intellectual developmental disorder 42

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33.

Synonyms: autosomal dominant mental retardation 42, autosomal dominant non-syndromic intellectual disability 42, MRD42

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

: gnb1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014855 - intellectual disability, autosomal dominant 42

MONDO:0014855 - intellectual disability, autosomal dominant 42

MIM:

MIM:616973 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 42; MRD42

MIM:616973 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 42; MRD42

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)