Charcot-Marie-Tooth disease type 2D

Charcot-Marie-Tooth disease type 2 that has material basis in mutation in the gene encoding glycyl tRNA synthetase (GARS)
MedicalCondition rare_disease Q27164471
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Summary

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

Key Facts

  • Charcot-Marie-Tooth disease type 2D's instance of is recorded as rare disease[2].
  • Charcot-Marie-Tooth disease type 2D's instance of is recorded as class of disease[3].
  • Charcot-Marie-Tooth disease type 2D's subclass of is recorded as Charcot-Marie-Tooth disease type 2[4].
  • Charcot-Marie-Tooth disease type 2D's subclass of is recorded as autosomal dominant disease[5].
  • Charcot-Marie-Tooth disease type 2D's MeSH descriptor ID is recorded as C537993[6].
  • Charcot-Marie-Tooth disease type 2D's OMIM ID is recorded as 601472[7].
  • Charcot-Marie-Tooth disease type 2D's Disease Ontology ID is recorded as DOID:0110164[8].
  • Charcot-Marie-Tooth disease type 2D's Orphanet ID is recorded as 99938[9].
  • Charcot-Marie-Tooth disease type 2D's NCI Thesaurus ID is recorded as C122659[10].
  • Charcot-Marie-Tooth disease type 2D's health specialty is recorded as neurology[11].
  • Charcot-Marie-Tooth disease type 2D's genetic association is recorded as GARS1[12].
  • Charcot-Marie-Tooth disease type 2D's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110164[13].
  • Charcot-Marie-Tooth disease type 2D's exact match is recorded as http://identifiers.org/doid/DOID:0110164[14].
  • Charcot-Marie-Tooth disease type 2D's UMLS CUI is recorded as C1832274[15].
  • Charcot-Marie-Tooth disease type 2D's ICD-10-CM is recorded as G60.0[16].
  • Charcot-Marie-Tooth disease type 2D's GARD rare disease ID is recorded as 1251[17].
  • Charcot-Marie-Tooth disease type 2D's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
  • Charcot-Marie-Tooth disease type 2D's Mondo ID is recorded as MONDO_0011091[19].
  • Charcot-Marie-Tooth disease type 2D's UniProt disease ID is recorded as DI-00278[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] ↑ . Monarch Disease Ontology release 2018-06-29. 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] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] ↑ . wikidata.org.
  11. [12] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  12. [13] ↑ . Disease Ontology. Retrieved . wikidata.org.
  13. [14] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  14. [15] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  15. [16] ↑ . Disease Ontology. Retrieved . wikidata.org.
  16. [17] ↑ . Monarch Disease Ontology release 2018-06-29. 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 2D. Retrieved May 3, 2026, from https://4ort.xyz/entity/charcot-marie-tooth-disease-type-2d
MLA “Charcot-Marie-Tooth disease type 2D.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/charcot-marie-tooth-disease-type-2d.
BibTeX @misc{4ortxyz_charcot-marie-tooth-disease-type-2d_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Charcot-Marie-Tooth disease type 2D}}, year = {2026}, url = {https://4ort.xyz/entity/charcot-marie-tooth-disease-type-2d}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Charcot-Marie-Tooth disease type 2D — https://4ort.xyz/entity/charcot-marie-tooth-disease-type-2d (retrieved 2026-05-03)

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