# trichothiodystrophy syndromes

> human disease

**Wikidata**: [Q3539030](https://www.wikidata.org/wiki/Q3539030)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Trichothiodystrophy)  
**Source**: https://4ort.xyz/entity/trichothiodystrophy-syndromes


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000104884/MONDO_0018053)
6. GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy
7. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000163161/MONDO_0018053)
9. A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
10. A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A
11. Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy
12. [Identifiers.org](https://registry.identifiers.org/registry/doid)