autosomal dominant intellectual developmental disorder 40

Summary

DOID:0070070 - autosomal dominant intellectual developmental disorder 40

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34.

Synonyms: MRD40, autosomal dominant mental retardation 40, autosomal dominant non-syndromic intellectual disability 40,

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

: champ1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014699 - intellectual disability, autosomal dominant 40

MONDO:0014699 - intellectual disability, autosomal dominant 40

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

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

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