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brittle cornea syndrome

Human disease
MedicalCondition rare_disease Q3508598
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brittle cornea syndrome

Summary

brittle cornea syndrome is a rare disease[1].

Key Facts

  • brittle cornea syndrome's instance of is recorded as rare disease[2].
  • brittle cornea syndrome's instance of is recorded as class of disease[3].
  • brittle cornea syndrome's subclass of is recorded as Ehlers-Danlos syndrome[4].
  • brittle cornea syndrome's subclass of is recorded as corneal disease[5].
  • brittle cornea syndrome's subclass of is recorded as autosomal recessive disease[6].
  • brittle cornea syndrome's MeSH descriptor ID is recorded as C536198[7].
  • brittle cornea syndrome's OMIM ID is recorded as 229200[8].
  • brittle cornea syndrome's OMIM ID is recorded as 614170[9].
  • brittle cornea syndrome's KEGG ID is recorded as H01902[10].
  • brittle cornea syndrome's KEGG ID is recorded as H02245[11].
  • brittle cornea syndrome's Disease Ontology ID is recorded as DOID:14775[12].
  • brittle cornea syndrome's anatomical location is recorded as cornea[13].
  • brittle cornea syndrome's Orphanet ID is recorded as 90354[14].
  • brittle cornea syndrome's NCI Thesaurus ID is recorded as C125700[15].
  • brittle cornea syndrome's genetic association is recorded as ZNF469[16].
  • brittle cornea syndrome's genetic association is recorded as PRDM5[17].
  • brittle cornea syndrome's Google Knowledge Graph ID is recorded as /g/121zvb_y[18].
  • brittle cornea syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_14775[19].
  • brittle cornea syndrome's exact match is recorded as http://identifiers.org/doid/DOID:14775[20].
  • brittle cornea syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_90354[21].
  • brittle cornea syndrome's UMLS CUI is recorded as C0268342[22].
  • brittle cornea syndrome's ICD-10-CM is recorded as Q79.6[23].
  • brittle cornea syndrome's GARD rare disease ID is recorded as 1019[24].
  • brittle cornea syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[25].
  • brittle cornea syndrome's Mondo ID is recorded as MONDO_0009242[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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [10] ↑ . wikidata.org.
  10. [11] ↑ . wikidata.org.
  11. [12] ↑ . Disease Ontology. Retrieved . wikidata.org.
  12. [13] ↑ . Disease Ontology. Retrieved . wikidata.org.
  13. [14] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [15] ↑ . Disease Ontology. Retrieved . wikidata.org.
  15. [16] ↑ . Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  16. [17] ↑ . Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. 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] ↑ . wikidata.org.
  21. [22] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  22. [23] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  23. [24] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . 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). brittle cornea syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/brittle-cornea-syndrome
MLA “brittle cornea syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/brittle-cornea-syndrome.
BibTeX @misc{4ortxyz_brittle-cornea-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{brittle cornea syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/brittle-cornea-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): brittle cornea syndrome — https://4ort.xyz/entity/brittle-cornea-syndrome (retrieved 2026-05-03)

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