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Echinobase
Summary Literature (0)
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: MRD5, autosomal dominant mental retardation 5, autosomal dominant non-syndromic intellectual disability 5,

Echinobase Genes :


OMIM:
MIM:612621 - mental retardation, autosomal dominant 5; mrd5

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant intellectual developmental disorder (is_a)