trichothiodystrophy syndromes

human disease
MedicalCondition rare_disease Q3539030
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trichothiodystrophy syndromes

Summary

trichothiodystrophy syndromes is a rare disease[1]. It draws 42 Wikipedia views per month (rare_disease category, ranking #203 of 627).[2]

Key Facts

  • trichothiodystrophy syndromes's instance of is recorded as rare disease[3].
  • trichothiodystrophy syndromes's instance of is recorded as class of disease[4].
  • trichothiodystrophy syndromes's subclass of is recorded as autosomal dominant disease[5].
  • trichothiodystrophy syndromes's subclass of is recorded as trichothiodystrophy[6].
  • trichothiodystrophy syndromes's MeSH descriptor ID is recorded as D054463[7].
  • trichothiodystrophy syndromes's OMIM ID is recorded as 601675[8].
  • trichothiodystrophy syndromes's Freebase ID is recorded as /m/05f48p7[9].
  • trichothiodystrophy syndromes's KEGG ID is recorded as H00866[10].
  • trichothiodystrophy syndromes's MeSH tree code is recorded as C16.131.077.899[11].
  • trichothiodystrophy syndromes's MeSH tree code is recorded as C16.131.831.874[12].
  • trichothiodystrophy syndromes's MeSH tree code is recorded as C16.320.850.895[13].
  • trichothiodystrophy syndromes's MeSH tree code is recorded as C17.800.804.874[14].
  • trichothiodystrophy syndromes's MeSH tree code is recorded as C17.800.827.895[15].
  • trichothiodystrophy syndromes's Disease Ontology ID is recorded as DOID:2960[16].
  • trichothiodystrophy syndromes's Orphanet ID is recorded as 33364[17].
  • trichothiodystrophy syndromes's NCI Thesaurus ID is recorded as C4924[18].
  • trichothiodystrophy syndromes's health specialty is recorded as dermatology[19].
  • trichothiodystrophy syndromes's health specialty is recorded as medical genetics[20].
  • trichothiodystrophy syndromes's genetic association is recorded as ERCC2[21].
  • trichothiodystrophy syndromes's genetic association is recorded as GTF2E2[22].
  • trichothiodystrophy syndromes's genetic association is recorded as ERCC3[23].
  • trichothiodystrophy syndromes's genetic association is recorded as RNF113A[24].
  • trichothiodystrophy syndromes's genetic association is recorded as GTF2H5[25].
  • trichothiodystrophy syndromes's genetic association is recorded as MPLKIP[26].
  • trichothiodystrophy syndromes's exact match is recorded as http://purl.obolibrary.org/obo/DOID_2960[27].

Why It Matters

trichothiodystrophy syndromes draws 42 Wikipedia views per month (rare_disease category, ranking #203 of 627).[2] It has Wikipedia articles in 8 language editions, a strong signal of global cultural recognition.[28] It is known by 8 alternative names across languages and contexts.[29]

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [3] . wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . Disease Ontology. Retrieved . wikidata.org.
  4. [6] . Disease Ontology. Retrieved . wikidata.org.
  5. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] . Disease Ontology. Retrieved . wikidata.org.
  7. [9] . Freebase Data Dumps. wikidata.org.
  8. [10] . wikidata.org.
  9. [11] . wikidata.org.
  10. [12] . wikidata.org.
  11. [13] . wikidata.org.
  12. [14] . wikidata.org.
  13. [15] . wikidata.org.
  14. [16] . Disease Ontology. Retrieved . wikidata.org.
  15. [17] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  16. [18] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  17. [19] . wikidata.org.
  18. [20] . wikidata.org.
  19. [21] . DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  20. [22] . GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy. wikidata.org.
  21. [23] . A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  22. [24] . A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.. wikidata.org.
  23. [25] . A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. wikidata.org.
  24. [26] . Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. wikidata.org.
  25. [27] . Disease Ontology. Retrieved . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.org.
  2. [28] . Wikidata sitelinks. wikidata.org.
  3. [29] . Wikidata aliases. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). trichothiodystrophy syndromes. Retrieved May 3, 2026, from https://4ort.xyz/entity/trichothiodystrophy-syndromes
MLA “trichothiodystrophy syndromes.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/trichothiodystrophy-syndromes.
BibTeX @misc{4ortxyz_trichothiodystrophy-syndromes_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{trichothiodystrophy syndromes}}, year = {2026}, url = {https://4ort.xyz/entity/trichothiodystrophy-syndromes}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): trichothiodystrophy syndromes — https://4ort.xyz/entity/trichothiodystrophy-syndromes (retrieved 2026-05-03)

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