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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 : champ1
MONDO:0014699 - intellectual disability, autosomal dominant 40 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee