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Echinobase
Summary Literature (0)
DOID:0060173 - Timothy syndrome

Disease Ontology Definition:A syndrome that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene on chromosome 12p13.33.

Synonyms:

Echinobase Genes :


OMIM:
MIM:601005 - timothy syndrome; ts

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)