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DO Term : Charcot-Marie-Tooth disease dominant intermediate C [DOID:0110199] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35.
  • synonyms:
  • Charcot-Marie-Tooth neuropathy dominant intermediate C,
  • ORDO:100045,
  • CMTDIC,
  • DI-CMTC,
  • MESH:C564257,
  • OMIM:608323,
  • 608323,
  • ICD10CM:G60.0,
  • autosomal dominant intermediate Charcot-Marie-Tooth disease type C
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Ontology Term --> Direct parents