autosomal dominant intellectual developmental disorder 5

Summary

DOID:0070035 - autosomal dominant intellectual developmental disorder 5

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32.

Synonyms: autosomal dominant mental retardation 5, autosomal dominant non-syndromic intellectual disability 5, MRD5

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

: syngap1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012960 - intellectual disability, autosomal dominant 5

MONDO:0012960 - intellectual disability, autosomal dominant 5

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)