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DO Term : Charcot-Marie-Tooth disease axonal type 2F [DOID:0110163] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1).
  • synonyms:
  • ICD10CM:G60.0,
  • Charcot-Marie-Tooth neuropathy type 2F,
  • OMIM:606595,
  • Charcot-Marie-Tooth neuronal type 2F,
  • ORDO:99940,
  • CMT2F,
  • 606595,
  • autosomal dominant Charcot-Marie-Tooth disease type 2F
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Ontology Term --> Direct parents