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Summary Literature (0)
DOID:0070044 - Coffin-Siris syndrome 2


Disease Ontology Definition:A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11.

Synonyms: CSS2, MRD14, autosomal dominant mental retardation 14,

Xenbase Genes : arid1a

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013819 - intellectual disability, autosomal dominant 14


Other Model Organisms: AGR, 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)