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Human Disease
Charcot-Marie-Tooth disease type 2EE
- Term ID
- DOID:0111559
- Synonyms
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- Charcot-Marie-Tooth disease, axonal, type 2EE
- CMT2EE
- Definition
- A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3. (2)
- References
- Ontology
- Human Disease ( DOID:0111559 )
- is a type of
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