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Metadata
ID DOID:0111559
Name Charcot-Marie-Tooth disease type 2EE
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 MPV17 on chromosome 2p23.3.
https://www.ncbi.nlm.nih.gov/pubmed/26437932, https://www.ncbi.nlm.nih.gov/pubmed/30298599
Xrefs

OMIM:618400

Synonyms

Charcot-Marie-Tooth disease, axonal, type 2EE [EXACT]

CMT2EE [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a Charcot-Marie-Tooth disease type 2

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