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DO Term : Timothy syndrome [DOID:0060173] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. 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.

synonyms:
long QT syndrome with syndactyly,
ICD10CM:G72.3,
ORDO:65283,
OMIM:601005,
601005,
UMLS_CUI:C1832916,
GARD:9294,
MESH:C536962

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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