# Revesz syndrome

> dyskeratosis congenita that has material basis in an X-linked recessive mutation of TINF2 on chromosome 14q12

**Wikidata**: [Q7318329](https://www.wikidata.org/wiki/Q7318329)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Revesz_syndrome)  
**Source**: https://4ort.xyz/entity/revesz-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000092330/MONDO_0009990)
6. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)