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DOID:0070046 - Coffin-Siris syndrome 4
Disease Ontology Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SMARCA4 on chromosome 19p13.2.
Synonyms: CSS4, MRD16, autosomal dominant mental retardation 16,
Echinobase Genes :
MIM:614609 - mental retardation, autosomal dominant 16; mrd16 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee