# Rothmund-Thomson syndrome

> human disease

**Wikidata**: [Q1583485](https://www.wikidata.org/wiki/Q1583485)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Rothmund–Thomson_syndrome)  
**Source**: https://4ort.xyz/entity/rothmund-thomson-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. [Source](https://ddrare.nibiohn.go.jp/)
3. Disease Ontology
4. Freebase Data Dumps. 2013
5. UniProt
6. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/dbf00cfa-ac36-4eb0-94c4-69b05014e0f6--2018-10-11T17:00:00)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbf00cfa-ac36-4eb0-94c4-69b05014e0f6-2018-10-11T170000.000Z)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000160957/MONDO_0010002)
10. YSO-Wikidata mapping project. 2023
11. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)