erythropoietic protoporphyria

acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue
MedicalCondition rare_disease Q1759600
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erythropoietic protoporphyria

Summary

erythropoietic protoporphyria is a rare disease[1]. It has Wikipedia articles in 7 language editions, a strong signal of global cultural recognition.[2]

Key Facts

  • erythropoietic protoporphyria's instance of is recorded as rare disease[3].
  • erythropoietic protoporphyria's instance of is recorded as class of disease[4].
  • erythropoietic protoporphyria is a type of porphyria due to ALAD deficiency[5].
  • erythropoietic protoporphyria is a type of Erythropoietic porphyria[6].
  • erythropoietic protoporphyria is a type of porphyria[7].
  • erythropoietic protoporphyria is a type of disease[8].
  • erythropoietic protoporphyria's Commons category is recorded as Erythropoietic protoporphyria[9].
  • erythropoietic protoporphyria's mode of inheritance is recorded as autosomal dominant[10].
  • erythropoietic protoporphyria's NCI Thesaurus ID is recorded as C84698[11].
  • erythropoietic protoporphyria's NCI Thesaurus ID is recorded as C84698[12].
  • erythropoietic protoporphyria's NCI Thesaurus ID is recorded as C84698[13].
  • erythropoietic protoporphyria's health specialty is recorded as endocrinology[14].
  • erythropoietic protoporphyria's health specialty is recorded as dermatology[15].
  • erythropoietic protoporphyria's genetic association is recorded as FECH[16].
  • erythropoietic protoporphyria's genetic association is recorded as ALAS2[17].
  • erythropoietic protoporphyria's exact match is recorded as http://purl.obolibrary.org/obo/DOID_13270[18].
  • erythropoietic protoporphyria's exact match is recorded as http://identifiers.org/doid/DOID:13270[19].
  • erythropoietic protoporphyria's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79278[20].
  • erythropoietic protoporphyria's on focus list of Wikimedia project is recorded as WikiProject Medicine[21].

Why It Matters

erythropoietic protoporphyria has Wikipedia articles in 7 language editions, a strong signal of global cultural recognition.[2] It is known by 15 alternative names across languages and contexts.[22]

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] . wikidata.org.
  5. [7] . wikidata.org.
  6. [8] . wikidata.org.
  7. [9] . wikidata.org.
  8. [10] . wikidata.org.
  9. [11] . Disease Ontology. Retrieved . wikidata.org.
  10. [12] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [13] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [14] . wikidata.org.
  13. [15] . wikidata.org.
  14. [16] . Q905695. Retrieved . wikidata.org.
  15. [17] . C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. wikidata.org.
  16. [18] . Disease Ontology. Retrieved . wikidata.org.
  17. [19] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  18. [20] . wikidata.org.
  19. [21] . wikidata.org.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikidata sitelinks. wikidata.org.
  2. [22] . 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). erythropoietic protoporphyria. Retrieved May 3, 2026, from https://4ort.xyz/entity/erythropoietic-protoporphyria
MLA “erythropoietic protoporphyria.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/erythropoietic-protoporphyria.
BibTeX @misc{4ortxyz_erythropoietic-protoporphyria_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{erythropoietic protoporphyria}}, year = {2026}, url = {https://4ort.xyz/entity/erythropoietic-protoporphyria}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): erythropoietic protoporphyria — https://4ort.xyz/entity/erythropoietic-protoporphyria (retrieved 2026-05-03)

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Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 22d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of porphyria due to ALAD deficiency, Erythropoietic porphyria, porphyria +1
    Health specialty endocrinology, dermatology
    Mode of inheritance autosomal dominant
    Genetic association FECH, ALAS2
    + 5 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39732|batch #39732]]: rm redundant subclass"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.