hereditary hemorrhagic telangiectasia

genetic disorder involving capillaries
MedicalCondition designated_intractable_rare_disease Q776881
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Summary

hereditary hemorrhagic telangiectasia is a designated intractable/rare disease[1]. It draws 2,622 Wikipedia views per month (designated intractable rare disease category, ranking #91 of 201).[2]

Key Facts

  • Instance of: rare disease[3], class of disease[4]
  • Named after: William Osler[5], Henri Jules Louis Marie Rendu[6], Frederick Parkes Weber[7]
  • Subclass of: autosomal dominant disease[8], vascular disease[9]
  • Commons category: Hereditary hemorrhagic telangiectasia[10]
  • Prevalence: 0.0003[11]
  • Mode of inheritance: autosomal dominant[12]
  • External data available at URL: http://www.nanbyou.or.jp/entry/4351[13]
  • ICD-9-CM: 448.0[14]
  • NCI Thesaurus ID: C35064[15]
  • Health specialty: medical genetics[16]
  • Genetic association: SMAD4[17], ENG[18], ACVRL1[19], GDF2[20]
  • Age of onset: any age[21]
  • Exact match: http://purl.obolibrary.org/obo/DOID_1270[22], http://identifiers.org/doid/DOID:1270[23], http://www.orpha.net/ORDO/Orphanet_774[24]
  • On focus list of Wikimedia project: WikiProject Medicine[25]
  • Has phenotype: nosebleed[26], portal hypertension[27], pulmonary arteriovenous malformations[28], arterial pulmonary hypertension[29]
  • P14914: D00774[30]

Why It Matters

hereditary hemorrhagic telangiectasia has Wikipedia articles in 19 language editions, a strong signal of global cultural recognition.[31] It is known by 39 alternative names across languages and contexts.[32]

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] ↑ . wikidata.org.
  6. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [10] ↑ . wikidata.org.
  9. [11] ↑ . Retrieved . wikidata.org.
  10. [12] ↑ . wikidata.org.
  11. [13] ↑ . ddrare.nibiohn.go.jp. Retrieved . ddrare.nibiohn.go.jp. Provenance: wikidata.org.
  12. [14] ↑ . Disease Ontology. Retrieved . wikidata.org.
  13. [15] ↑ . Disease Ontology. Retrieved . wikidata.org.
  14. [16] ↑ . wikidata.org.
  15. [17] ↑ . UniProt. Retrieved . wikidata.org.
  16. [18] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  17. [19] ↑ . Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.. wikidata.org.
  18. [20] ↑ . BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia. wikidata.org.
  19. [21] ↑ . Retrieved . wikidata.org.
  20. [22] ↑ . Disease Ontology. Retrieved . wikidata.org.
  21. [23] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  22. [24] ↑ . wikidata.org.
  23. [25] ↑ . wikidata.org.
  24. [26] ↑ . Retrieved . wikidata.org.
  25. [27] ↑ . Retrieved . wikidata.org.
  26. [28] ↑ . Retrieved . wikidata.org.
  27. [29] ↑ . Retrieved . wikidata.org.
  28. [30] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.org.
  2. [31] ↑ . Wikidata sitelinks. wikidata.org.
  3. [32] ↑ . 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). hereditary hemorrhagic telangiectasia. Retrieved October 24, 2026, from https://4ort.xyz/entity/hereditary-hemorrhagic-telangiectasia
MLA “hereditary hemorrhagic telangiectasia.” 4ort.xyz Knowledge Graph, 4ort.xyz, 24 Oct. 2026, https://4ort.xyz/entity/hereditary-hemorrhagic-telangiectasia.
BibTeX @misc{4ortxyz_hereditary-hemorrhagic-telangiectasia_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{hereditary hemorrhagic telangiectasia}}, year = {2026}, url = {https://4ort.xyz/entity/hereditary-hemorrhagic-telangiectasia}, note = {Accessed: 2026-10-24}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): hereditary hemorrhagic telangiectasia — https://4ort.xyz/entity/hereditary-hemorrhagic-telangiectasia (retrieved 2026-10-24)

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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. 6h ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Prevalence → {'amount': '+0.0003'}
    Wikipedia languages → ['ar', 'bs', 'ca', 'commons', 'da', 'de', 'en', 'es', 'fa', 'fi', 'fr', 'hy', 'i
    Age of onset → any age
    Has phenotype → nosebleed, portal hypertension, pulmonary arteriovenous malformations +1
    + 2 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"
  2. 16w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of → autosomal dominant disease, vascular disease
    Named after → —
    Health specialty → medical genetics
    Mode of inheritance → autosomal dominant
    + 7 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"
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