|
DOID:1925 - Coffin-Siris syndrome
Disease Ontology Definition:A genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability.
Synonyms: Dwarfism-Onychodysplasia, Fifth Digit Syndrome, Short Stature-Onychodysplasia.,
Echinobase Genes : smarcb1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
genetic disease (is_a),
syndrome (is_a)