autosomal dominant intellectual developmental disorder 11

Summary

DOID:0070041 - autosomal dominant intellectual developmental disorder 11

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23.

Synonyms: autosomal dominant mental retardation 11, autosomal dominant non-syndromic intellectual disability 11, MRD11

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

: epb41l1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013658 - intellectual disability, autosomal dominant 11

MONDO:0013658 - intellectual disability, autosomal dominant 11

MIM:

MIM:614257 - CHROMOSOME 20q11-q12 DELETION SYNDROME

MIM:614257 - CHROMOSOME 20q11-q12 DELETION SYNDROME

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)