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DOID:0070047 - Schuurs-Hoeijmakers Syndrome
Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2.
Synonyms: MRD17, SHMS, autosomal dominant mental retardation 17,
Echinobase Genes :
MIM:615009 - mental retardation, autosomal dominant 17; mrd17 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee