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DO Term : Charcot-Marie-Tooth disease type 2I [DOID:0110158] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
  • synonyms:
  • OMIM:607677,
  • ICD10CM:G60.0,
  • ORDO:99942,
  • Charcot-Marie-Tooth neuropathy type 2I,
  • CMT2I,
  • 607677,
  • MESH:C535416
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Ontology Term --> Direct parents