Terminology Service for NFDI4Health

Timothy syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0060173


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 CACNA1C on chromosome 12p13.33. [ http://purl.obolibrary.org/obo/ECO_0007646 http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

Timothy syndrome

database cross reference
created by

lschriml

creation date

2011-11-08T12:52:33Z

has alternative id

DOID:0110649

has obo namespace

disease_ontology

id

DOID:0060173