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congenital bile acid synthesis defect 2

Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins
MedicalCondition rare_disease Q42863601
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Summary

congenital bile acid synthesis defect 2 is a rare disease[1]. It is known by 10 alternative names across languages and contexts.[2]

Key Facts

  • Instance of: class of disease[3]
  • Subclass of: genetic disease[4], congenital bile acid synthesis defect[5]
  • Genetic association: AKR1D1[6]
  • Exact match: http://purl.obolibrary.org/obo/DOID_0111069[7], http://identifiers.org/doid/DOID:0111069[8], http://www.orpha.net/ORDO/Orphanet_79303[9], http://purl.obolibrary.org/obo/MONDO_0009339[10], http://linkedlifedata.com/resource/umls/id/C1856127[11], http://identifiers.org/mesh/C535443[12], http://identifiers.org/omim/235555[13]
  • On focus list of Wikimedia project: WikiProject Medicine[14]

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [5] ↑ . Mondo Disease Ontology. Retrieved . wikidata.org.
  4. [6] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  5. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [8] ↑ . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  7. [9] ↑ . Mondo Disease Ontology. Retrieved . wikidata.org.
  8. [10] ↑ . Mondo Disease Ontology. Retrieved . wikidata.org.
  9. [11] ↑ . Mondo Disease Ontology. Retrieved . wikidata.org.
  10. [12] ↑ . Mondo Disease Ontology. Retrieved . wikidata.org.
  11. [13] ↑ . Mondo Disease Ontology. Retrieved . wikidata.org.
  12. [14] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . 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). congenital bile acid synthesis defect 2. Retrieved May 3, 2026, from https://4ort.xyz/entity/congenital-bile-acid-synthesis-defect-2
MLA “congenital bile acid synthesis defect 2.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/congenital-bile-acid-synthesis-defect-2.
BibTeX @misc{4ortxyz_congenital-bile-acid-synthesis-defect-2_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{congenital bile acid synthesis defect 2}}, year = {2026}, url = {https://4ort.xyz/entity/congenital-bile-acid-synthesis-defect-2}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): congenital bile acid synthesis defect 2 — https://4ort.xyz/entity/congenital-bile-acid-synthesis-defect-2 (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/congenital-bile-acid-synthesis-defect-2 · Last refreshed:

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. 14w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Mondo id → MONDO_0009339
    Imported from → —
    Umls cui → C1856127
    Disease ontology id → DOID:0111069
    + 11 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39943|batch #39943]]: deprecate redundant disease superclasses"
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