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Charcot-Marie-Tooth disease type 2I

human disease
MedicalCondition rare_disease Q27164464
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Summary

Charcot-Marie-Tooth disease type 2I is a rare disease[1]. It is known by 9 alternative names across languages and contexts.[2]

Key Facts

  • Instance of: class of disease[3]
  • Subclass of: Charcot-Marie-Tooth disease type 2[4], autosomal dominant disease[5]
  • Prevalence: 0.000001[6]
  • Health specialty: neurology[7]
  • Genetic association: MPZ[8]
  • Age of onset: adult onset[9]
  • Exact match: http://purl.obolibrary.org/obo/DOID_0110158[10], http://identifiers.org/doid/DOID:0110158[11]
  • On focus list of Wikimedia project: WikiProject Medicine[12]
  • P14914: D99942[13]

References

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

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [6] ↑ . Retrieved . wikidata.org.
  5. [7] ↑ . wikidata.org.
  6. [8] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  7. [9] ↑ . Retrieved . wikidata.org.
  8. [10] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [11] ↑ . Disease Ontology. Retrieved . registry.identifiers.org. Provenance: wikidata.org.
  10. [12] ↑ . wikidata.org.
  11. [13] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikidata aliases. 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). Charcot-Marie-Tooth disease type 2I. Retrieved October 24, 2026, from https://4ort.xyz/entity/charcot-marie-tooth-disease-type-2i
MLA “Charcot-Marie-Tooth disease type 2I.” 4ort.xyz Knowledge Graph, 4ort.xyz, 24 Oct. 2026, https://4ort.xyz/entity/charcot-marie-tooth-disease-type-2i.
BibTeX @misc{4ortxyz_charcot-marie-tooth-disease-type-2i_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Charcot-Marie-Tooth disease type 2I}}, year = {2026}, url = {https://4ort.xyz/entity/charcot-marie-tooth-disease-type-2i}, note = {Accessed: 2026-10-24}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Charcot-Marie-Tooth disease type 2I — https://4ort.xyz/entity/charcot-marie-tooth-disease-type-2i (retrieved 2026-10-24)

Canonical URL: https://4ort.xyz/entity/charcot-marie-tooth-disease-type-2i · 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. 18h ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Uniprot disease id → DI-00281
    Mondo id → MONDO_0011889
    Instance of → rare disease, class of disease
    Gard rare disease id → 9197
    + 16 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update-languages-and-other-short:0||pt, pt-br */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"
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