autosomal dominant intellectual developmental disorder 26

Summary

DOID:0070056 - autosomal dominant intellectual developmental disorder 26

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22.

Synonyms: autosomal dominant mental retardation 26, autosomal dominant non-syndromic intellectual disability 26, MRD26

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

: auts2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014361 - autism spectrum disorder due to AUTS2 deficiency

MONDO:0014361 - autism spectrum disorder due to AUTS2 deficiency

MIM:

MIM:615834 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 26; MRD26

MIM:615834 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 26; MRD26

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)