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DOID:0070045 - Coffin-Siris syndrome 3
Disease Ontology Definition:A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23.
Synonyms: CSS3, MRD15, autosomal dominant mental retardation 15,
Xenbase Genes : smarcb1
MONDO:0013820 - intellectual disability, autosomal dominant 15 |
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)