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DO Term : Charcot-Marie-Tooth disease dominant intermediate D [DOID:0110200] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
  • synonyms:
  • Charcot-Marie-Tooth neuropathy dominant intermediate D,
  • ICD10CM:G60.0,
  • CMTDID,
  • DI-CMTD,
  • 607791,
  • ORDO:100046,
  • MESH:C564333,
  • autosomal dominant intermediate Charcot-Marie-Tooth disease type D,
  • OMIM:607791
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