|
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:0015452 - Coffin-Siris syndrome |
Other Model Organisms: Alliance, 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)