Charcot-Marie-Tooth disease axonal type 2O

Summary
Synonym
  • Charcot-Marie-Tooth neuropathy axonal type 2O
  • autosomal dominant Charcot-Marie-Tooth disease type 2O
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2O
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.
Super Class
Charcot-Marie-Tooth disease type 2 autosomal dominant disease
Disease Ontology
DOID:0110175
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1778 DYNC1H1 dynein cytoplasmic 1 heavy chain 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
13424 Dync1h1 dynein cytoplasmic 1 heavy chain 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
29489 Dync1h1 dynein cytoplasmic 1 heavy chain 1

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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