hereditary hyperferritinemia with congenital cataracts

Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload
MedicalCondition rare_disease Q55782879
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hereditary hyperferritinemia with congenital cataracts

Summary

hereditary hyperferritinemia with congenital cataracts is a rare disease[1].

Key Facts

  • hereditary hyperferritinemia with congenital cataracts's instance of is recorded as rare disease[2].
  • hereditary hyperferritinemia with congenital cataracts's instance of is recorded as class of disease[3].
  • hereditary hyperferritinemia with congenital cataracts's subclass of is recorded as metabolic disease with cataract[4].
  • hereditary hyperferritinemia with congenital cataracts's subclass of is recorded as syndromic cataract[5].
  • hereditary hyperferritinemia with congenital cataracts's subclass of is recorded as autosomal dominant disease[6].
  • hereditary hyperferritinemia with congenital cataracts's subclass of is recorded as syndrome[7].
  • hereditary hyperferritinemia with congenital cataracts's subclass of is recorded as increased serum ferritin[8].
  • hereditary hyperferritinemia with congenital cataracts's MeSH descriptor ID is recorded as C538137[9].
  • hereditary hyperferritinemia with congenital cataracts's OMIM ID is recorded as 600886[10].
  • hereditary hyperferritinemia with congenital cataracts's KEGG ID is recorded as H02204[11].
  • hereditary hyperferritinemia with congenital cataracts's Disease Ontology ID is recorded as DOID:0111256[12].
  • hereditary hyperferritinemia with congenital cataracts's Orphanet ID is recorded as 163[13].
  • hereditary hyperferritinemia with congenital cataracts's ICD-9-CM is recorded as 289.89[14].
  • hereditary hyperferritinemia with congenital cataracts's ICD-9-CM is recorded as 366.44[15].
  • hereditary hyperferritinemia with congenital cataracts's genetic association is recorded as FTL[16].
  • hereditary hyperferritinemia with congenital cataracts's Google Knowledge Graph ID is recorded as /g/11j22pdx2f[17].
  • hereditary hyperferritinemia with congenital cataracts's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_163[18].
  • hereditary hyperferritinemia with congenital cataracts's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111256[19].
  • hereditary hyperferritinemia with congenital cataracts's exact match is recorded as http://identifiers.org/doid/DOID:0111256[20].
  • hereditary hyperferritinemia with congenital cataracts's UMLS CUI is recorded as C1833213[21].
  • hereditary hyperferritinemia with congenital cataracts's ICD-10-CM is recorded as H26.0[22].
  • hereditary hyperferritinemia with congenital cataracts's GARD rare disease ID is recorded as 2806[23].
  • hereditary hyperferritinemia with congenital cataracts's on focus list of Wikimedia project is recorded as WikiProject Medicine[24].
  • hereditary hyperferritinemia with congenital cataracts's Mondo ID is recorded as MONDO_0010952[25].
  • hereditary hyperferritinemia with congenital cataracts's Genetics Home Reference Conditions ID is recorded as hyperferritinemia-cataract-syndrome[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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [5] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] . Disease Ontology. Retrieved . wikidata.org.
  6. [7] . Disease Ontology. Retrieved . wikidata.org.
  7. [8] . wikidata.org.
  8. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] . wikidata.org.
  11. [12] . Disease Ontology. Retrieved . wikidata.org.
  12. [13] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  13. [14] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [15] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  15. [16] . Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  16. [17] . wikidata.org.
  17. [18] . wikidata.org.
  18. [19] . Disease Ontology. Retrieved . wikidata.org.
  19. [20] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  20. [21] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  21. [22] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  22. [23] . Disease Ontology. Retrieved . wikidata.org.
  23. [24] . wikidata.org.
  24. [25] . 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). hereditary hyperferritinemia with congenital cataracts. Retrieved May 3, 2026, from https://4ort.xyz/entity/hereditary-hyperferritinemia-with-congenital-cataracts
MLA “hereditary hyperferritinemia with congenital cataracts.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/hereditary-hyperferritinemia-with-congenital-cataracts.
BibTeX @misc{4ortxyz_hereditary-hyperferritinemia-with-congenital-cataracts_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{hereditary hyperferritinemia with congenital cataracts}}, year = {2026}, url = {https://4ort.xyz/entity/hereditary-hyperferritinemia-with-congenital-cataracts}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): hereditary hyperferritinemia with congenital cataracts — https://4ort.xyz/entity/hereditary-hyperferritinemia-with-congenital-cataracts (retrieved 2026-05-03)

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