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fructose-1,6-bisphosphatase deficiency

carbohydrate metabolic disorder that has material basis in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis
MedicalCondition rare_disease Q3043147
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Summary

fructose-1,6-bisphosphatase deficiency is a rare disease[1].

Key Facts

  • fructose-1,6-bisphosphatase deficiency's instance of is recorded as rare disease[2].
  • fructose-1,6-bisphosphatase deficiency's instance of is recorded as class of disease[3].
  • fructose-1,6-bisphosphatase deficiency's subclass of is recorded as carbohydrate metabolic disorder[4].
  • fructose-1,6-bisphosphatase deficiency's subclass of is recorded as gluconeogenesis disorder[5].
  • fructose-1,6-bisphosphatase deficiency's subclass of is recorded as disorder of fructose metabolism[6].
  • fructose-1,6-bisphosphatase deficiency's MeSH descriptor ID is recorded as D015319[7].
  • fructose-1,6-bisphosphatase deficiency's OMIM ID is recorded as 229700[8].
  • fructose-1,6-bisphosphatase deficiency's DiseasesDB is recorded as 5012[9].
  • fructose-1,6-bisphosphatase deficiency's KEGG ID is recorded as H00114[10].
  • fructose-1,6-bisphosphatase deficiency's MeSH tree code is recorded as C16.320.565.202.251.221[11].
  • fructose-1,6-bisphosphatase deficiency's MeSH tree code is recorded as C18.452.648.202.251.221[12].
  • fructose-1,6-bisphosphatase deficiency's eMedicine ID is recorded as 943882[13].
  • fructose-1,6-bisphosphatase deficiency's Disease Ontology ID is recorded as DOID:5204[14].
  • fructose-1,6-bisphosphatase deficiency's Encyclopædia Britannica Online ID is recorded as science/fructose-16-diphosphatase-deficiency[15].
  • fructose-1,6-bisphosphatase deficiency's Orphanet ID is recorded as 348[16].
  • fructose-1,6-bisphosphatase deficiency's NCI Thesaurus ID is recorded as C128119[17].
  • fructose-1,6-bisphosphatase deficiency's health specialty is recorded as endocrinology[18].
  • fructose-1,6-bisphosphatase deficiency's genetic association is recorded as FBP1[19].
  • fructose-1,6-bisphosphatase deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_5204[20].
  • fructose-1,6-bisphosphatase deficiency's exact match is recorded as http://identifiers.org/doid/DOID:5204[21].
  • fructose-1,6-bisphosphatase deficiency's UMLS CUI is recorded as C0016756[22].
  • fructose-1,6-bisphosphatase deficiency's UMLS CUI is recorded as C0019489[23].
  • fructose-1,6-bisphosphatase deficiency's ICD-10-CM is recorded as E74.19[24].
  • fructose-1,6-bisphosphatase deficiency's ICD-10-CM is recorded as E74.1[25].
  • fructose-1,6-bisphosphatase deficiency's GARD rare disease ID is recorded as 2400[26].

References

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

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . wikidata.org.
  10. [11] ↑ . wikidata.org.
  11. [12] ↑ . wikidata.org.
  12. [13] ↑ . wikidata.org.
  13. [14] ↑ . Disease Ontology. Retrieved . wikidata.org.
  14. [15] ↑ . wikidata.org.
  15. [16] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  16. [17] ↑ . Disease Ontology. Retrieved . wikidata.org.
  17. [18] ↑ . wikidata.org.
  18. [19] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  19. [20] ↑ . Disease Ontology. Retrieved . wikidata.org.
  20. [21] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  21. [22] ↑ . Disease Ontology. Retrieved . wikidata.org.
  22. [23] ↑ . UMLS 2023. Retrieved . wikidata.org.
  23. [24] ↑ . Disease Ontology. Retrieved . wikidata.org.
  24. [25] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  25. [26] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. 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). fructose-1,6-bisphosphatase deficiency. Retrieved October 14, 2026, from https://4ort.xyz/entity/fructose-1-6-bisphosphatase-deficiency
MLA “fructose-1,6-bisphosphatase deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 14 Oct. 2026, https://4ort.xyz/entity/fructose-1-6-bisphosphatase-deficiency.
BibTeX @misc{4ortxyz_fructose-1-6-bisphosphatase-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{fructose-1,6-bisphosphatase deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/fructose-1-6-bisphosphatase-deficiency}, note = {Accessed: 2026-10-14}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): fructose-1,6-bisphosphatase deficiency — https://4ort.xyz/entity/fructose-1-6-bisphosphatase-deficiency (retrieved 2026-10-14)

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