# Timothy syndrome

> 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

**Wikidata**: [Q3508705](https://www.wikidata.org/wiki/Q3508705)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Timothy_syndrome)  
**Source**: https://4ort.xyz/entity/timothy-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. UniProt
5. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000151067/MONDO_0010979)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)