epidermolysis bullosa simplex

disorder resulting from mutations in the genes encoding keratin 5 or keratin 14
MedicalCondition rare_disease Q3124960
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epidermolysis bullosa simplex

Summary

epidermolysis bullosa simplex is a rare disease[1]. It draws 66 Wikipedia views per month (rare_disease category, ranking #191 of 627).[2]

Key Facts

  • epidermolysis bullosa simplex's instance of is recorded as rare disease[3].
  • epidermolysis bullosa simplex's instance of is recorded as class of disease[4].
  • Edward Alfred Cockayne is named after epidermolysis bullosa simplex[5].
  • Frederick Parkes Weber is named after epidermolysis bullosa simplex[6].
  • epidermolysis bullosa simplex's subclass of is recorded as epidermolysis bullosa[7].
  • epidermolysis bullosa simplex's Commons category is recorded as Epidermolysis bullosa simplex[8].
  • epidermolysis bullosa simplex's MeSH descriptor ID is recorded as D016110[9].
  • epidermolysis bullosa simplex's OMIM ID is recorded as 601001[10].
  • epidermolysis bullosa simplex's OMIM ID is recorded as 615425[11].
  • epidermolysis bullosa simplex's ICD-9 ID is recorded as 757.39[12].
  • epidermolysis bullosa simplex's DiseasesDB is recorded as 4334[13].
  • epidermolysis bullosa simplex's Freebase ID is recorded as /m/0ddcds[14].
  • epidermolysis bullosa simplex's KEGG ID is recorded as H00584[15].
  • epidermolysis bullosa simplex's MeSH tree code is recorded as C16.131.831.493.180[16].
  • epidermolysis bullosa simplex's MeSH tree code is recorded as C16.320.850.275.180[17].
  • epidermolysis bullosa simplex's MeSH tree code is recorded as C17.800.804.493.180[18].
  • epidermolysis bullosa simplex's MeSH tree code is recorded as C17.800.827.275.180[19].
  • epidermolysis bullosa simplex's MeSH tree code is recorded as C17.800.865.410.180[20].
  • epidermolysis bullosa simplex's eMedicine ID is recorded as 1062939[21].
  • epidermolysis bullosa simplex's Disease Ontology ID is recorded as DOID:4644[22].
  • epidermolysis bullosa simplex's Orphanet ID is recorded as 304[23].
  • epidermolysis bullosa simplex's NCI Thesaurus ID is recorded as C84692[24].
  • epidermolysis bullosa simplex's health specialty is recorded as medical genetics[25].
  • epidermolysis bullosa simplex's genetic association is recorded as DST[26].
  • epidermolysis bullosa simplex's BabelNet ID is recorded as 03323665n[27].

Why It Matters

epidermolysis bullosa simplex draws 66 Wikipedia views per month (rare_disease category, ranking #191 of 627).[2] It is known by 3 alternative names across languages and contexts.[28]

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] . wikidata.org.
  4. [6] . wikidata.org.
  5. [7] . Disease Ontology. Retrieved . wikidata.org.
  6. [8] . wikidata.org.
  7. [9] . Disease Ontology. Retrieved . wikidata.org.
  8. [10] . Disease Ontology. Retrieved . wikidata.org.
  9. [11] . Disease Ontology. Retrieved . wikidata.org.
  10. [12] . wikidata.org.
  11. [13] . wikidata.org.
  12. [14] . Freebase Data Dumps. wikidata.org.
  13. [15] . wikidata.org.
  14. [16] . wikidata.org.
  15. [17] . wikidata.org.
  16. [18] . wikidata.org.
  17. [19] . wikidata.org.
  18. [20] . wikidata.org.
  19. [21] . wikidata.org.
  20. [22] . Disease Ontology. Retrieved . wikidata.org.
  21. [23] . wikidata.org.
  22. [24] . Disease Ontology. Retrieved . wikidata.org.
  23. [25] . wikidata.org.
  24. [26] . A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.. wikidata.org.
  25. [27] . BabelNet. wikidata.org.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.org.
  2. [28] . 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). epidermolysis bullosa simplex. Retrieved May 3, 2026, from https://4ort.xyz/entity/epidermolysis-bullosa-simplex
MLA “epidermolysis bullosa simplex.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/epidermolysis-bullosa-simplex.
BibTeX @misc{4ortxyz_epidermolysis-bullosa-simplex_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{epidermolysis bullosa simplex}}, year = {2026}, url = {https://4ort.xyz/entity/epidermolysis-bullosa-simplex}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): epidermolysis bullosa simplex — https://4ort.xyz/entity/epidermolysis-bullosa-simplex (retrieved 2026-05-03)

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