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Charcot-Marie-Tooth disease type 2I

Summary
Synonym
  • CMT2I
  • Charcot-Marie-Tooth neuropathy type 2I
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
Super Class
Charcot-Marie-Tooth disease type 2 autosomal dominant disease
Disease Ontology
DOID:0110158
Mondo Disease Ontology
MeSH
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4359 MPZ myelin protein zero
Displaying 1 entry
Gene ID Gene Symbol Description Source
17528 Mpz myelin protein zero
Displaying 1 entry
Gene ID Gene Symbol Description Source
24564 Mpz myelin protein zero
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
780198 mpz myelin protein zero Xenopus tropicalis (tropical clawed frog)
100037196 mpz.S myelin protein zero S homeolog Xenopus laevis (African clawed frog)
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 9, 2024