FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Timothy syndrome ID (Ontology) DOID:0060173 (Human Disease)
Definition 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.
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 Genes
 Timothy syndrome       1
 for disease ribbon | Timothy syndrome       1
 model of | Timothy syndrome       1
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                Timothy syndrome  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "long QT syndrome with syndactyly" RELATED
Secondary IDs
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GARD:9294
ICD10CM:G72.3
MESH:C536962
MIM:601005
ORDO:65283
UMLS_CUI:C1832916