autosomal dominant intellectual developmental disorder 43

Summary

DOID:0070073 - autosomal dominant intellectual developmental disorder 43

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2.

Synonyms: autosomal dominant mental retardation 43, autosomal dominant non-syndromic intellectual disability 43, MRD43

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

: hivep2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014858 - intellectual disability, autosomal dominant 43

MONDO:0014858 - intellectual disability, autosomal dominant 43

MIM:

MIM:616977 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 43; MRD43

MIM:616977 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 43; MRD43

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)