Charcot-Marie-Tooth disease type 2

Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell
MedicalCondition rare_disease Q3281254
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Charcot-Marie-Tooth disease type 2

Summary

Charcot-Marie-Tooth disease type 2 is a rare disease[1].

Key Facts

  • Charcot-Marie-Tooth disease type 2's instance of is recorded as rare disease[2].
  • Charcot-Marie-Tooth disease type 2's instance of is recorded as class of disease[3].
  • Charcot-Marie-Tooth disease type 2's subclass of is recorded as Charcot–Marie–Tooth disease[4].
  • Charcot-Marie-Tooth disease type 2's OMIM ID is recorded as 118230[5].
  • Charcot-Marie-Tooth disease type 2's OMIM ID is recorded as 604484[6].
  • Charcot-Marie-Tooth disease type 2's Disease Ontology ID is recorded as DOID:0050539[7].
  • Charcot-Marie-Tooth disease type 2's Orphanet ID is recorded as 64746[8].
  • Charcot-Marie-Tooth disease type 2's ICD-9-CM is recorded as 356.0[9].
  • Charcot-Marie-Tooth disease type 2's health specialty is recorded as neurology[10].
  • Charcot-Marie-Tooth disease type 2's genetic association is recorded as TFG[11].
  • Charcot-Marie-Tooth disease type 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050539[12].
  • Charcot-Marie-Tooth disease type 2's exact match is recorded as http://identifiers.org/doid/DOID:0050539[13].
  • Charcot-Marie-Tooth disease type 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_64746[14].
  • Charcot-Marie-Tooth disease type 2's UMLS CUI is recorded as C0392553[15].
  • Charcot-Marie-Tooth disease type 2's UMLS CUI is recorded as C5548211[16].
  • Charcot-Marie-Tooth disease type 2's GARD rare disease ID is recorded as 12431[17].
  • Charcot-Marie-Tooth disease type 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
  • Charcot-Marie-Tooth disease type 2's ICD-11 ID is recorded as 8C20.1[19].
  • Charcot-Marie-Tooth disease type 2's ICD-11 ID is recorded as 403896648[20].

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] . The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. wikidata.org.
  11. [12] . Disease Ontology. Retrieved . wikidata.org.
  12. [13] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  13. [14] . wikidata.org.
  14. [15] . Disease Ontology. Retrieved . wikidata.org.
  15. [16] . UMLS 2023. Retrieved . wikidata.org.
  16. [17] . Disease Ontology. Retrieved . wikidata.org.
  17. [18] . wikidata.org.
  18. [19] . wikidata.org.
  19. [20] . 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). Charcot-Marie-Tooth disease type 2. Retrieved May 3, 2026, from https://4ort.xyz/entity/charcot-marie-tooth-disease-type-2
MLA “Charcot-Marie-Tooth disease type 2.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/charcot-marie-tooth-disease-type-2.
BibTeX @misc{4ortxyz_charcot-marie-tooth-disease-type-2_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Charcot-Marie-Tooth disease type 2}}, year = {2026}, url = {https://4ort.xyz/entity/charcot-marie-tooth-disease-type-2}, note = {Accessed: 2026-05-03}}
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