Home › Entities › cataract › cataract 44

cataract 44

cataract that has material basis in homozygous mutation in the LSS gene on chromosome 21q22
Class type of: cataract, autosomal recessive disease Q27674906

Facts

6 properties
Instance of
rare disease, class of disease[2]
Subclass of
cataract, autosomal recessive disease[3][4]
Age of onset
infantile onset, neonatal onset[20][21]
Genetic association
LSS, MIP, EPHA2, CRYGS, CRYAA, CRYBB2, CRYGB, GCNT2, GJA8, HSF4, LIM2, NHS, FYCO1, PGRMC1, LEMD2, AGK, SIPA1L3, DNMBP[6][7][8][9][10][11][12][13][14][15][16][17][18][19]
Health specialty
medical genetics[5]
On focus list of Wikimedia project
WikiProject Medicine[22]
🏷️ Also known as
en cataract 44 en CTRCT44 en total early-onset cataract fr cataracte totale précoce
🔖 Identifiers · 8
Disease Ontology ID
DOID:0110267
Exact match
purl.obolibrary.org, identifiers.org
ICD-10-CM
Q12.0
Mondo ID
MONDO_0014673
OMIM ID
616509
Orphanet ID
98994
Raras disease ID
D98994
UniProt disease ID
DI-04502

Report an error or request removal Lineage (PROV-JSON)

Press Enter · cited answer in seconds

Summary

cataract 44 is a rare disease[1].

References

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

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . wikidata.org.
  5. [6] ↑ . Lanosterol reverses protein aggregation in cataracts. wikidata.org.
  6. [7] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  7. [8] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  8. [9] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  9. [10] ↑ . Retrieved . wikidata.org.
  10. [11] ↑ . Retrieved . wikidata.org.
  11. [12] ↑ . Retrieved . wikidata.org.
  12. [13] ↑ . Retrieved . wikidata.org.
  13. [14] ↑ . Retrieved . wikidata.org.
  14. [15] ↑ . Retrieved . wikidata.org.
  15. [16] ↑ . Retrieved . wikidata.org.
  16. [17] ↑ . Retrieved . wikidata.org.
  17. [18] ↑ . Retrieved . wikidata.org.
  18. [19] ↑ . Retrieved . wikidata.org.
  19. [20] ↑ . Retrieved . wikidata.org.
  20. [21] ↑ . Retrieved . wikidata.org.
  21. [22] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. 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). cataract 44. Retrieved October 24, 2026, from https://4ort.xyz/entity/cataract-44
MLA “cataract 44.” 4ort.xyz Knowledge Graph, 4ort.xyz, 24 Oct. 2026, https://4ort.xyz/entity/cataract-44.
BibTeX @misc{4ortxyz_cataract-44_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{cataract 44}}, year = {2026}, url = {https://4ort.xyz/entity/cataract-44}, note = {Accessed: 2026-10-24}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): cataract 44 — https://4ort.xyz/entity/cataract-44 (retrieved 2026-10-24)

Canonical URL: https://4ort.xyz/entity/cataract-44 · 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. 19d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Health specialty → medical genetics
    UniProt disease ID → DI-04502
    Mondo ID → MONDO_0014673
    Instance of → rare disease, class of disease
    + 11 other properties edited (see Wikidata diff for full list)
    "Changed labels, descriptions, aliases and claims: QuickStatements 3.0 batch #61469: Raras.org data import"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.