xeroderma pigmentosum group E

autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer
MedicalCondition class_of_disease Q32143748
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xeroderma pigmentosum group E

Summary

xeroderma pigmentosum group E is a class of disease[1].

Key Facts

  • xeroderma pigmentosum group E's instance of is recorded as class of disease[2].
  • xeroderma pigmentosum group E's subclass of is recorded as xeroderma pigmentosum[3].
  • xeroderma pigmentosum group E's MeSH descriptor ID is recorded as C564732[4].
  • xeroderma pigmentosum group E's OMIM ID is recorded as 278740[5].
  • xeroderma pigmentosum group E's Disease Ontology ID is recorded as DOID:0110846[6].
  • xeroderma pigmentosum group E's Orphanet ID is recorded as 276261[7].
  • xeroderma pigmentosum group E's NCI Thesaurus ID is recorded as C114771[8].
  • xeroderma pigmentosum group E's health specialty is recorded as medical genetics[9].
  • xeroderma pigmentosum group E's genetic association is recorded as DDB2[10].
  • xeroderma pigmentosum group E's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110846[11].
  • xeroderma pigmentosum group E's exact match is recorded as http://identifiers.org/doid/DOID:0110846[12].
  • xeroderma pigmentosum group E's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_276261[13].
  • xeroderma pigmentosum group E's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_910[14].
  • xeroderma pigmentosum group E's UMLS CUI is recorded as C1848411[15].
  • xeroderma pigmentosum group E's ICD-10-CM is recorded as Q82.1[16].
  • xeroderma pigmentosum group E's GARD rare disease ID is recorded as 5627[17].
  • xeroderma pigmentosum group E's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
  • xeroderma pigmentosum group E's Mondo ID is recorded as MONDO_0010213[19].
  • xeroderma pigmentosum group E's UniProt disease ID is recorded as DI-01159[20].

References

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

Direct Wikidata claims

  1. [2] . wikidata.org.
  2. [3] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  3. [4] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [5] . Disease Ontology. Retrieved . wikidata.org.
  5. [6] . Disease Ontology. Retrieved . wikidata.org.
  6. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] . wikidata.org.
  9. [10] . Q905695. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  10. [11] . Disease Ontology. Retrieved . wikidata.org.
  11. [12] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  12. [13] . wikidata.org.
  13. [14] . wikidata.org.
  14. [15] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  15. [16] . Disease Ontology. Retrieved . wikidata.org.
  16. [17] . wikidata.org.
  17. [18] . wikidata.org.
  18. [19] . wikidata.org.
  19. [20] . wikidata.org.

Class ancestry

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

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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). xeroderma pigmentosum group E. Retrieved May 3, 2026, from https://4ort.xyz/entity/xeroderma-pigmentosum-group-e
MLA “xeroderma pigmentosum group E.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/xeroderma-pigmentosum-group-e.
BibTeX @misc{4ortxyz_xeroderma-pigmentosum-group-e_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{xeroderma pigmentosum group E}}, year = {2026}, url = {https://4ort.xyz/entity/xeroderma-pigmentosum-group-e}, note = {Accessed: 2026-05-03}}
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