Johanson-Blizzard syndrome

congenital disorder of digestive system
MedicalCondition rare_disease Q1699007
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Johanson-Blizzard syndrome

Summary

Johanson-Blizzard syndrome is a rare disease[1]. It draws 15 Wikipedia views per month (rare_disease category, ranking #223 of 627).[2]

Key Facts

  • Johanson-Blizzard syndrome's image is recorded as Johanson-Blizzard syndrome.png[3].
  • Johanson-Blizzard syndrome's instance of is recorded as rare disease[4].
  • Johanson-Blizzard syndrome's instance of is recorded as class of disease[5].
  • Johanson-Blizzard syndrome's subclass of is recorded as autosomal recessive disease[6].
  • Johanson-Blizzard syndrome's subclass of is recorded as syndrome[7].
  • Johanson-Blizzard syndrome's Commons category is recorded as Johanson–Blizzard syndrome[8].
  • Johanson-Blizzard syndrome's MeSH descriptor ID is recorded as C535880[9].
  • Johanson-Blizzard syndrome's OMIM ID is recorded as 243800[10].
  • Johanson-Blizzard syndrome's ICD-9 ID is recorded as 751.7[11].
  • Johanson-Blizzard syndrome's ICD-10 ID is recorded as Q87.8[12].
  • Johanson-Blizzard syndrome's DiseasesDB is recorded as 31914[13].
  • Johanson-Blizzard syndrome's KEGG ID is recorded as H00571[14].
  • Johanson-Blizzard syndrome's Disease Ontology ID is recorded as DOID:14694[15].
  • Johanson-Blizzard syndrome's Orphanet ID is recorded as 2315[16].
  • Johanson-Blizzard syndrome's NCI Thesaurus ID is recorded as C210826[17].
  • Johanson-Blizzard syndrome's health specialty is recorded as medical genetics[18].
  • Johanson-Blizzard syndrome's genetic association is recorded as UBR1[19].
  • Johanson-Blizzard syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_14694[20].
  • Johanson-Blizzard syndrome's exact match is recorded as http://identifiers.org/doid/DOID:14694[21].
  • Johanson-Blizzard syndrome's UMLS CUI is recorded as C0175692[22].
  • Johanson-Blizzard syndrome's GARD rare disease ID is recorded as 80[23].
  • Johanson-Blizzard syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[24].
  • Johanson-Blizzard syndrome's Mondo ID is recorded as MONDO_0009479[25].
  • Johanson-Blizzard syndrome's SNOMED CT ID is recorded as 75979009[26].
  • Johanson-Blizzard syndrome's Microsoft Academic ID is recorded as 2776992525[27].

Why It Matters

Johanson-Blizzard syndrome draws 15 Wikipedia views per month (rare_disease category, ranking #223 of 627).[2] It has Wikipedia articles in 10 language editions, a strong signal of global cultural recognition.[28] It is known by 3 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] . Disease Ontology. Retrieved . 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] . wikidata.org.
  10. [12] . wikidata.org.
  11. [13] . wikidata.org.
  12. [14] . wikidata.org.
  13. [15] . Disease Ontology. Retrieved . wikidata.org.
  14. [16] . wikidata.org.
  15. [17] . wikidata.org.
  16. [18] . wikidata.org.
  17. [19] . Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). wikidata.org.
  18. [20] . Disease Ontology. Retrieved . wikidata.org.
  19. [21] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  20. [22] . Disease Ontology. Retrieved . wikidata.org.
  21. [23] . Disease Ontology. Retrieved . wikidata.org.
  22. [24] . wikidata.org.
  23. [25] . wikidata.org.
  24. [26] . wikidata.org.
  25. [27] . 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.

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

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