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Disease Ontology Browser
Timothy syndrome (DOID:0060173)
Alt IDs: OMIM:601005, DOID:0110649, DOID:0110649, DOID:0110649, DOID:0110649, DOID:0110649, DOID:0110649, DOID:0110649, DOID:0110649, DOID:0110649, DOID:0110649, DOID:0110649, ICD10CM:G72.3, ORDO:65283, ORDO:768
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.

Disease References using Mouse Models (4)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/15/2017
MGI 6.10
The Jackson Laboratory