Charcot-Marie-Tooth disease type 4E

Charcot-Marie-Tooth disease type 4 that has material basis in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23

MedicalCondition rare_disease Q27677657

Press Enter · cited answer in seconds

Summary

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

Key Facts

Charcot-Marie-Tooth disease type 4E's instance of is recorded as rare disease^[2].
Charcot-Marie-Tooth disease type 4E's instance of is recorded as class of disease^[3].
Charcot-Marie-Tooth disease type 4E's subclass of is recorded as Charcot-Marie-Tooth disease type 4^[4].
Charcot-Marie-Tooth disease type 4E's MeSH descriptor ID is recorded as C535301^[5].
Charcot-Marie-Tooth disease type 4E's OMIM ID is recorded as 605253^[6].
Charcot-Marie-Tooth disease type 4E's KEGG ID is recorded as H02357^[7].
Charcot-Marie-Tooth disease type 4E's Disease Ontology ID is recorded as DOID:0110195^[8].
Charcot-Marie-Tooth disease type 4E's Orphanet ID is recorded as 99951^[9].
Charcot-Marie-Tooth disease type 4E's health specialty is recorded as neurology^[10].
Charcot-Marie-Tooth disease type 4E's genetic association is recorded as EGR2^[11].
Charcot-Marie-Tooth disease type 4E's genetic association is recorded as MPZ^[12].
Charcot-Marie-Tooth disease type 4E's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110195^[13].
Charcot-Marie-Tooth disease type 4E's exact match is recorded as http://identifiers.org/doid/DOID:0110195^[14].
Charcot-Marie-Tooth disease type 4E's UMLS CUI is recorded as C3551756^[15].
Charcot-Marie-Tooth disease type 4E's UMLS CUI is recorded as C0393818^[16].
Charcot-Marie-Tooth disease type 4E's UMLS CUI is recorded as C4721437^[17].
Charcot-Marie-Tooth disease type 4E's ICD-10-CM is recorded as G60.0^[18].
Charcot-Marie-Tooth disease type 4E's GARD rare disease ID is recorded as 6170^[19].
Charcot-Marie-Tooth disease type 4E's on focus list of Wikimedia project is recorded as WikiProject Medicine^[20].
Charcot-Marie-Tooth disease type 4E's Mondo ID is recorded as MONDO_0011527^[21].

⭐ Popularity Graph

0/100 long tail

Quick Facts

Instance of rare disease, class of disease

Subclass of Charcot-Marie-Tooth disease type 4

Properties

Exact match purl.obolibrary.org, identifiers.org

Genetic association EGR2, MPZ

Health specialty neurology

Imported from wholeness_audit_2026-05-02

On focus list of wikimedia project WikiProject Medicine

External References (9)

Disease ontology id DOID:0110195

Gard rare disease id 6170

Icd-10-cm G60.0

Kegg id H02357

Mesh descriptor id C535301

Mondo id MONDO_0011527

Omim id 605253

Orphanet id 99951

Umls cui C3551756, C0393818, C4721437

🏷️ Also known as

en Autosomal recessive congenital hypomyelinating neuropathy en autosomal recessive congenital hypomyelinating or amyelinating neuropathy en Charcot-Marie-Tooth disease type 4E en Charcot-Marie-Tooth Disease, Type 4E en Charcot-Marie-Tooth neuropathy type 4E en Charcot-Marie-Tooth Neuropathy, Type 4E en CHN en CMT4E en Congenital hypomyelination neuropathy en Hypomyelination, Severe Congenital en Neuropathy, congenital hypomyelinating, 1 en Neuropathy, Congenital Hypomyelinating, Autosomal Dominant en NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING, AUTOSOMAL RECESSIVE en NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING, AUTOSOMAL RECESSIVE; CHN

References

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

Direct Wikidata claims

[2] ↑ Charcot-Marie-Tooth disease type 4E — instance of (P31): rare disease. wikidata.org.
[3] ↑ Charcot-Marie-Tooth disease type 4E — instance of (P31): class of disease. wikidata.org.
[4] ↑ Charcot-Marie-Tooth disease type 4E — subclass of (P279): Charcot-Marie-Tooth disease type 4. Disease Ontology. Retrieved 2019-05-15. wikidata.org.
[5] ↑ Charcot-Marie-Tooth disease type 4E — MeSH descriptor ID (P486): C535301. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[6] ↑ Charcot-Marie-Tooth disease type 4E — OMIM ID (P492): 605253. Disease Ontology. Retrieved 2019-08-28. wikidata.org.
[7] ↑ Charcot-Marie-Tooth disease type 4E — KEGG ID (P665): H02357. wikidata.org.
[8] ↑ Charcot-Marie-Tooth disease type 4E — Disease Ontology ID (P699): DOID:0110195. Disease Ontology. Retrieved 2019-08-28. wikidata.org.
[9] ↑ Charcot-Marie-Tooth disease type 4E — Orphanet ID (P1550): 99951. Disease Ontology. Retrieved 2019-08-28. wikidata.org.
[10] ↑ Charcot-Marie-Tooth disease type 4E — health specialty (P1995): neurology. wikidata.org.
[11] ↑ Charcot-Marie-Tooth disease type 4E — genetic association (P2293): EGR2. UniProt. Retrieved 2019-08-13. wikidata.org.
[12] ↑ Charcot-Marie-Tooth disease type 4E — genetic association (P2293): MPZ. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. wikidata.org.
[13] ↑ Charcot-Marie-Tooth disease type 4E — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0110195. Disease Ontology. Retrieved 2019-08-28. wikidata.org.
[14] ↑ Charcot-Marie-Tooth disease type 4E — exact match (P2888): http://identifiers.org/doid/DOID:0110195. Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
[15] ↑ Charcot-Marie-Tooth disease type 4E — UMLS CUI (P2892): C3551756. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[16] ↑ Charcot-Marie-Tooth disease type 4E — UMLS CUI (P2892): C0393818. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[17] ↑ Charcot-Marie-Tooth disease type 4E — UMLS CUI (P2892): C4721437. UMLS 2023. Retrieved 2023-06-16. wikidata.org.
[18] ↑ Charcot-Marie-Tooth disease type 4E — ICD-10-CM (P4229): G60.0. Disease Ontology. Retrieved 2019-08-28. wikidata.org.
[19] ↑ Charcot-Marie-Tooth disease type 4E — GARD rare disease ID (P4317): 6170. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[20] ↑ Charcot-Marie-Tooth disease type 4E — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.
[21] ↑ Charcot-Marie-Tooth disease type 4E — Mondo ID (P5270): MONDO_0011527. wikidata.org.

Class ancestry

[1] ↑ Charcot-Marie-Tooth disease type 4E is an instance of rare disease (Q929833) [P31, primary]. Wikidata. 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 4E. Retrieved May 3, 2026, from https://4ort.xyz/entity/charcot-marie-tooth-disease-type-4e

MLA

“Charcot-Marie-Tooth disease type 4E.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/charcot-marie-tooth-disease-type-4e.

BibTeX

@misc{4ortxyz_charcot-marie-tooth-disease-type-4e_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Charcot-Marie-Tooth disease type 4E}}, year = {2026}, url = {https://4ort.xyz/entity/charcot-marie-tooth-disease-type-4e}, 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 4E — https://4ort.xyz/entity/charcot-marie-tooth-disease-type-4e (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/charcot-marie-tooth-disease-type-4e · Last refreshed: May 3, 2026