autosomal dominant intellectual developmental disorder 48

Summary

DOID:0080235 - autosomal dominant intellectual developmental disorder 48

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22.

Synonyms: autosomal dominant mental retardation 48

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

: rac1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0030913 - intellectual disability, autosomal dominant 48

MONDO:0030913 - intellectual disability, autosomal dominant 48

MIM:

MIM:617751 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48; MRD48

MIM:617751 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48; MRD48

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)