autosomal dominant intellectual developmental disorder 23

Summary

DOID:0070053 - autosomal dominant intellectual developmental disorder 23

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3.

Synonyms: autosomal dominant mental retardation 23, autosomal dominant non-syndromic intellectual disability 23, MRD23

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

: setd5

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014336 - intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

MONDO:0014336 - intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

MIM:

MIM:615761 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23; MRD23

MIM:615761 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23; MRD23

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)