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DO Term : Charcot-Marie-Tooth disease type 2EE [DOID:0111559] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • CMT2EE,
  • Charcot-Marie-Tooth disease, axonal, type 2EE,
  • OMIM:618400,
  • 618400
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