Hoyeraal-Hreidarsson syndrome

a rare multisystem disease characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.
MedicalCondition rare_disease Q9390252
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Hoyeraal-Hreidarsson syndrome

Summary

Hoyeraal-Hreidarsson syndrome is a rare disease[1]. It draws 36 Wikipedia views per month (rare_disease category, ranking #202 of 627).[2]

Key Facts

  • Hoyeraal-Hreidarsson syndrome's instance of is recorded as rare disease[3].
  • Hoyeraal-Hreidarsson syndrome's instance of is recorded as class of disease[4].
  • Hoyeraal-Hreidarsson syndrome's subclass of is recorded as dyskeratosis congenita[5].
  • Hoyeraal-Hreidarsson syndrome's subclass of is recorded as X-linked recessive[6].
  • Hoyeraal-Hreidarsson syndrome's subclass of is recorded as syndrome[7].
  • Hoyeraal-Hreidarsson syndrome's MeSH descriptor ID is recorded as C536068[8].
  • Hoyeraal-Hreidarsson syndrome's OMIM ID is recorded as 305000[9].
  • Hoyeraal-Hreidarsson syndrome's OMIM ID is recorded as 613989[10].
  • Hoyeraal-Hreidarsson syndrome's OMIM ID is recorded as 613990[11].
  • Hoyeraal-Hreidarsson syndrome's OMIM ID is recorded as 615190[12].
  • Hoyeraal-Hreidarsson syndrome's OMIM ID is recorded as 616353[13].
  • Hoyeraal-Hreidarsson syndrome's OMIM ID is recorded as 616553[14].
  • Hoyeraal-Hreidarsson syndrome's ICD-10 ID is recorded as D61.0[15].
  • Hoyeraal-Hreidarsson syndrome's DiseasesDB is recorded as 32955[16].
  • Hoyeraal-Hreidarsson syndrome's KEGG ID is recorded as H00788[17].
  • Hoyeraal-Hreidarsson syndrome's Orphanet ID is recorded as 3322[18].
  • Hoyeraal-Hreidarsson syndrome's health specialty is recorded as medical genetics[19].
  • Hoyeraal-Hreidarsson syndrome's genetic association is recorded as PARN[20].
  • Hoyeraal-Hreidarsson syndrome's genetic association is recorded as ACD[21].
  • Hoyeraal-Hreidarsson syndrome's genetic association is recorded as TINF2[22].
  • Hoyeraal-Hreidarsson syndrome's genetic association is recorded as TERT[23].
  • Hoyeraal-Hreidarsson syndrome's genetic association is recorded as RTEL1[24].
  • Hoyeraal-Hreidarsson syndrome's genetic association is recorded as DKC1[25].
  • Hoyeraal-Hreidarsson syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_3322[26].
  • Hoyeraal-Hreidarsson syndrome's UMLS CUI is recorded as C1148551[27].

Why It Matters

Hoyeraal-Hreidarsson syndrome draws 36 Wikipedia views per month (rare_disease category, ranking #202 of 627).[2] It has Wikipedia articles in 5 language editions, a strong signal of global cultural recognition.[28] It is known by 5 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] . wikidata.org.
  4. [6] . wikidata.org.
  5. [7] . wikidata.org.
  6. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] . 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] . wikidata.org.
  15. [17] . wikidata.org.
  16. [18] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  17. [19] . wikidata.org.
  18. [20] . Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. wikidata.org.
  19. [21] . Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  20. [22] . TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. wikidata.org.
  21. [23] . Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  22. [24] . Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  23. [25] . X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. wikidata.org.
  24. [26] . wikidata.org.
  25. [27] . Monarch Disease Ontology release 2018-06-29. 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.

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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). Hoyeraal-Hreidarsson syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/hoyeraal-hreidarsson-syndrome
MLA “Hoyeraal-Hreidarsson syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/hoyeraal-hreidarsson-syndrome.
BibTeX @misc{4ortxyz_hoyeraal-hreidarsson-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Hoyeraal-Hreidarsson syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/hoyeraal-hreidarsson-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Hoyeraal-Hreidarsson syndrome — https://4ort.xyz/entity/hoyeraal-hreidarsson-syndrome (retrieved 2026-05-03)

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