Charcot-Marie-Tooth disease type 4H

Summary
Synonym
  • CMT4H
  • Charcot-Marie-Tooth neuropathy type 4H
  • autosomal recessive Charcot-Marie-Tooth disease type 4H
  • autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H
Definition
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4).
Super Class
Charcot-Marie-Tooth disease type 4 autosomal recessive disease
Disease Ontology
DOID:0110192
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
89846 FGD3 FYVE, RhoGEF and PH domain containing 3

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024