Drug Target Ontology

Last uploaded: February 15, 2018
Id http://purl.obolibrary.org/obo/DOID_0060173
http://purl.obolibrary.org/obo/DOID_0060173
Preferred Name

Timothy syndrome

Definitions
An autosomal dominant disease 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 CACNA1C on chromosome 12p13.33.
Type http://www.w3.org/2002/07/owl#Class
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