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Summary Literature (2)
DOID:1925 - Coffin-Siris syndrome


Disease Ontology Definition:An autosomal dominant non-syndromic intellectual disability 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.


In Mondo Disease Ontology:
MONDO:0015452 - Coffin-Siris syndrome

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

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

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