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Human Disease
Charcot-Marie-Tooth disease, axonal type 2W
- Term ID
- DOID:0110162
- Synonyms
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- autosomal dominant axonal Charcot-Marie-Tooth disease type 2W
- Charcot-Marie-Tooth neuropathy type 2W
- CMT2W
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31. https://www.ncbi.nlm.nih.gov/pubmed/22930593
- References
- Ontology
- Human Disease ( DOID:0110162 )
- is a type of
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