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cataract 12 multiple types

cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22
Class type of: cataract, autosomal dominant disease Q27674880

Facts

6 properties
Instance of
rare disease, class of disease[2]
Subclass of
cataract, autosomal dominant disease[3][4]
Genetic association
BFSP2[6]
Health specialty
medical genetics[5]
Imported from
wholeness_audit_2026-05-02
On focus list of Wikimedia project
WikiProject Medicine[7]
🏷️ Also known as
en cataract 12 multiple types en CATARACT 12, MULTIPLE TYPES en CATARACT 12, MULTIPLE TYPES; CTRCT12 en CTRCT12
🔖 Identifiers · 7
Disease Ontology ID
DOID:0110239
Exact match
purl.obolibrary.org, identifiers.org
ICD-10-CM
Q12.0
Mondo ID
MONDO_0012701
OMIM ID
611597
UMLS CUI
C1969032, C3808115
UniProt disease ID
DI-01215

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Summary

cataract 12 multiple types 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] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  6. [7] ↑ . 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). cataract 12 multiple types. Retrieved May 3, 2026, from https://4ort.xyz/entity/cataract-12-multiple-types
MLA “cataract 12 multiple types.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/cataract-12-multiple-types.
BibTeX @misc{4ortxyz_cataract-12-multiple-types_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{cataract 12 multiple types}}, year = {2026}, url = {https://4ort.xyz/entity/cataract-12-multiple-types}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): cataract 12 multiple types — https://4ort.xyz/entity/cataract-12-multiple-types (retrieved 2026-05-03)

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