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cone-rod dystrophy 5

cone-rod dystrophy that has material basis in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1
Class type of: cone-rod dystrophy Q32146011

Facts

4 properties
Instance of
rare disease, class of disease[2]
Subclass of
cone-rod dystrophy[3]
Genetic association
PITPNM3[4]
On focus list of Wikimedia project
WikiProject Medicine[5]
🏷️ Also known as
en cone-rod dystrophy 5 en CONE-ROD DYSTROPHY 5; CORD5 en Cone-Rod Dystrophy type 5 en CORD5
🔖 Identifiers · 8
Disease Ontology ID
DOID:0111010
Exact match
purl.obolibrary.org, identifiers.org
GARD rare disease ID
10655
MeSH descriptor ID
C563415
Mondo ID
MONDO_0010969
OMIM ID
600977
UMLS CUI
C1832976
UniProt disease ID
DI-00320

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Summary

cone-rod dystrophy 5 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] ↑ . UniProt. Retrieved . wikidata.org.
  4. [5] ↑ . 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). cone-rod dystrophy 5. Retrieved May 3, 2026, from https://4ort.xyz/entity/cone-rod-dystrophy-5
MLA “cone-rod dystrophy 5.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/cone-rod-dystrophy-5.
BibTeX @misc{4ortxyz_cone-rod-dystrophy-5_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{cone-rod dystrophy 5}}, year = {2026}, url = {https://4ort.xyz/entity/cone-rod-dystrophy-5}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): cone-rod dystrophy 5 — https://4ort.xyz/entity/cone-rod-dystrophy-5 (retrieved 2026-05-03)

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