Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0070044 - Coffin-Siris syndrome 2


Disease Ontology Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ARID1A on chromosome 1p36.11.

Synonyms: CSS2, MRD14, autosomal dominant mental retardation 14

In OMIM:
OMIM:614607 - COFFIN-SIRIS SYNDROME 2; CSS2

In Mondo Disease Ontology:
MONDO:0013819 - intellectual disability, autosomal dominant 14

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

Xenbase Genes : arid1a

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