Coffin-Siris syndrome 2

Summary

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,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: arid1a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013819 - intellectual disability, autosomal dominant 14

MONDO:0013819 - intellectual disability, autosomal dominant 14

OMIM:

OMIM:614607 - COFFIN-SIRIS SYNDROME 2; CSS2

OMIM:614607 - COFFIN-SIRIS SYNDROME 2; CSS2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant intellectual developmental disorder (is_a)