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DOID:0070046 - Coffin-Siris syndrome 4
Disease Ontology Definition:A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2.
Synonyms: CSS4, MRD16, autosomal dominant mental retardation 16,
Xenbase Genes : smarca4
MONDO:0013821 - intellectual disability, autosomal dominant 16 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Coffin-Siris syndrome (is_a),
autosomal dominant intellectual developmental disorder (is_a)