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Summary Literature (0)
DOID:0070045 - Coffin-Siris syndrome 3


Disease Ontology Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SMARCB1 on chromosome 22q11.23.

Synonyms: CSS3, MRD15, autosomal dominant mental retardation 15

In OMIM:
OMIM:614608 - COFFIN-SIRIS SYNDROME 3; CSS3

In Mondo Disease Ontology:
MONDO:0013820 - intellectual disability, autosomal dominant 15

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : smarcb1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant non-syndromic intellectual disability (is_a)