Coffin-Siris syndrome

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Echinobase

Summary

Literature (0)

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 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

: smarcb1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): genetic disease (is_a), syndrome (is_a)