autosomal dominant intellectual developmental disorder 29

Summary

DOID:0070059 - autosomal dominant intellectual developmental disorder 29

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3.

Synonyms: autosomal dominant mental retardation 29, autosomal dominant non-syndromic intellectual disability 29, MRD29

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

: zmynd11, setbp1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014482 - intellectual disability, autosomal dominant 29

MONDO:0014482 - intellectual disability, autosomal dominant 29

MIM:

MIM:616078 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29; MRD29

MIM:616078 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29; MRD29

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)