Coffin-Siris syndrome

Summary

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 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

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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0015452 - Coffin-Siris syndrome

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)