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Disease Ontology Browser
Timothy syndrome (DOID:0060173)
Alliance: disease page
Synonyms: long QT syndrome with syndactyly
Alt IDs: OMIM:601005, ICD10CM:G72.3, MESH:C536962, ORDO:65283, UMLS_CUI:C1832916
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.

Disease References using Mouse Models (5)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory