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 (2)
DOID:1925 - Coffin-Siris syndrome

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.

Synonyms: Dwarfism-Onychodysplasia, Fifth Digit Syndrome, Short Stature-Onychodysplasia.,

Xenbase Genes : sox4, smarce1, sox11, smarca4, smarcc2, arid1a, smarcb1, dpf2, arid1b, arid2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0015452 - Coffin-Siris syndrome

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), genetic disease (is_a), syndrome (is_a)