Summary Literature (0)

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

Xenbase Genes : champ1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014699 - extraembryonic venous system

MIM:

MIM:616579 - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES; NEDHILD

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

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