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ZIRC
OBO ID: DOID:0060173
Term Name: Timothy syndrome Search Ontology:
Synonyms:
Definition: 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. (3)
References:
Ontology: Human Disease   (DOID:0060173)
OTHER Timothy syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CACNA1C Timothy syndrome 601005
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (2)