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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 the MPV17 gene 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