Charcot-Marie-Tooth disease type 4B3

Charcot-Marie-Tooth disease type 4 that has material basis in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q
MedicalCondition rare_disease Q27677656
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Charcot-Marie-Tooth disease type 4B3

Summary

Charcot-Marie-Tooth disease type 4B3 is a rare disease[1].

Key Facts

  • Charcot-Marie-Tooth disease type 4B3's instance of is recorded as rare disease[2].
  • Charcot-Marie-Tooth disease type 4B3's instance of is recorded as class of disease[3].
  • Charcot-Marie-Tooth disease type 4B3's subclass of is recorded as Charcot-Marie-Tooth disease type 4[4].
  • Charcot-Marie-Tooth disease type 4B3's subclass of is recorded as autosomal recessive disease[5].
  • Charcot-Marie-Tooth disease type 4B3's OMIM ID is recorded as 615284[6].
  • Charcot-Marie-Tooth disease type 4B3's Disease Ontology ID is recorded as DOID:0110194[7].
  • Charcot-Marie-Tooth disease type 4B3's Orphanet ID is recorded as 363981[8].
  • Charcot-Marie-Tooth disease type 4B3's NCI Thesaurus ID is recorded as C190871[9].
  • Charcot-Marie-Tooth disease type 4B3's health specialty is recorded as neurology[10].
  • Charcot-Marie-Tooth disease type 4B3's genetic association is recorded as SBF1[11].
  • Charcot-Marie-Tooth disease type 4B3's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110194[12].
  • Charcot-Marie-Tooth disease type 4B3's exact match is recorded as http://identifiers.org/doid/DOID:0110194[13].
  • Charcot-Marie-Tooth disease type 4B3's UMLS CUI is recorded as C3695063[14].
  • Charcot-Marie-Tooth disease type 4B3's ICD-10-CM is recorded as G60.0[15].
  • Charcot-Marie-Tooth disease type 4B3's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
  • Charcot-Marie-Tooth disease type 4B3's Mondo ID is recorded as MONDO_0014117[17].
  • Charcot-Marie-Tooth disease type 4B3's UniProt disease ID is recorded as DI-03784[18].

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] . Monarch Disease Ontology release 2018-06-29. 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] . wikidata.org.
  9. [10] . wikidata.org.
  10. [11] . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  11. [12] . Disease Ontology. Retrieved . wikidata.org.
  12. [13] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  13. [14] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [15] . Disease Ontology. Retrieved . wikidata.org.
  15. [16] . wikidata.org.
  16. [17] . wikidata.org.
  17. [18] . 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 4B3. Retrieved May 3, 2026, from https://4ort.xyz/entity/charcot-marie-tooth-disease-type-4b3
MLA “Charcot-Marie-Tooth disease type 4B3.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/charcot-marie-tooth-disease-type-4b3.
BibTeX @misc{4ortxyz_charcot-marie-tooth-disease-type-4b3_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Charcot-Marie-Tooth disease type 4B3}}, year = {2026}, url = {https://4ort.xyz/entity/charcot-marie-tooth-disease-type-4b3}, 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 4B3 — https://4ort.xyz/entity/charcot-marie-tooth-disease-type-4b3 (retrieved 2026-05-03)

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