autosomal dominant intellectual developmental disorder 2

Summary

DOID:0070032 - autosomal dominant intellectual developmental disorder 2

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24.

Synonyms: autosomal dominant mental retardation 2, MRD2, autosomal dominant non-syndromic intellectual disability 2

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

: dock8

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013581 - metapodium bone 1

MONDO:0013581 - metapodium bone 1

MIM:

MIM:614113 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 2; MRD2

MIM:614113 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 2; MRD2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): autosomal dominant intellectual developmental disorder (is_a)