autosomal dominant intellectual developmental disorder 21

Summary

DOID:0070051 - autosomal dominant intellectual developmental disorder 21

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1.

Synonyms: autosomal dominant mental retardation 21, MRD21, autosomal dominant non-syndromic intellectual disability 21

Echinobase 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

: ctcf

MIM:

MIM:615502 - mental retardation, autosomal dominant 21; mrd21

MIM:615502 - mental retardation, autosomal dominant 21; mrd21

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)