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Charcot-Marie-Tooth disease dominant intermediate E

Charcot-Marie-Tooth disease intermediate type that has material basis in heterozygous mutation in the INF2 gene on chromosome 14q32
MedicalCondition rare_disease Q27677669
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Charcot-Marie-Tooth disease dominant intermediate E

Summary

Charcot-Marie-Tooth disease dominant intermediate E is a rare disease[1].

Key Facts

  • Charcot-Marie-Tooth disease dominant intermediate E's instance of is recorded as rare disease[2].
  • Charcot-Marie-Tooth disease dominant intermediate E's instance of is recorded as class of disease[3].
  • Charcot-Marie-Tooth disease dominant intermediate E's subclass of is recorded as Charcot-Marie-Tooth disease intermediate type[4].
  • Charcot-Marie-Tooth disease dominant intermediate E's subclass of is recorded as primary glomerular disease[5].
  • Charcot-Marie-Tooth disease dominant intermediate E's subclass of is recorded as autosomal dominant intermediate Charcot-Marie-Tooth disease[6].
  • Charcot-Marie-Tooth disease dominant intermediate E's subclass of is recorded as autosomal dominant disease[7].
  • Charcot-Marie-Tooth disease dominant intermediate E's OMIM ID is recorded as 614455[8].
  • Charcot-Marie-Tooth disease dominant intermediate E's Disease Ontology ID is recorded as DOID:0110205[9].
  • Charcot-Marie-Tooth disease dominant intermediate E's Orphanet ID is recorded as 93114[10].
  • Charcot-Marie-Tooth disease dominant intermediate E's health specialty is recorded as neurology[11].
  • Charcot-Marie-Tooth disease dominant intermediate E's genetic association is recorded as INF2[12].
  • Charcot-Marie-Tooth disease dominant intermediate E's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110205[13].
  • Charcot-Marie-Tooth disease dominant intermediate E's exact match is recorded as http://identifiers.org/doid/DOID:0110205[14].
  • Charcot-Marie-Tooth disease dominant intermediate E's UMLS CUI is recorded as C3280845[15].
  • Charcot-Marie-Tooth disease dominant intermediate E's UMLS CUI is recorded as C4302667[16].
  • Charcot-Marie-Tooth disease dominant intermediate E's ICD-10-CM is recorded as G60.0[17].
  • Charcot-Marie-Tooth disease dominant intermediate E's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
  • Charcot-Marie-Tooth disease dominant intermediate E's Mondo ID is recorded as MONDO_0013758[19].
  • Charcot-Marie-Tooth disease dominant intermediate E's UniProt disease ID is recorded as DI-03340[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] ↑ . Monarch Disease Ontology release 2018-06-29. 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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  10. [11] ↑ . wikidata.org.
  11. [12] ↑ . Q905695. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  12. [13] ↑ . Disease Ontology. Retrieved . wikidata.org.
  13. [14] ↑ . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  14. [15] ↑ . Monarch Disease Ontology release 2018-06-29. 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 dominant intermediate E. Retrieved May 3, 2026, from https://4ort.xyz/entity/charcot-marie-tooth-disease-dominant-intermediate-e
MLA “Charcot-Marie-Tooth disease dominant intermediate E.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/charcot-marie-tooth-disease-dominant-intermediate-e.
BibTeX @misc{4ortxyz_charcot-marie-tooth-disease-dominant-intermediate-e_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Charcot-Marie-Tooth disease dominant intermediate E}}, year = {2026}, url = {https://4ort.xyz/entity/charcot-marie-tooth-disease-dominant-intermediate-e}, 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 dominant intermediate E — https://4ort.xyz/entity/charcot-marie-tooth-disease-dominant-intermediate-e (retrieved 2026-05-03)

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