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Summary Literature (0)
DOID:0070042 - Coffin-Siris syndrome 1

Disease Ontology Definition:A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3.

Synonyms: CSS1, MRD12, autosomal dominant mental retardation 12, fifth digit syndrome,

Xenbase Genes : arid1b

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013804 - obsolete intellectual disability, autosomal dominant 12

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)