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DO Term : Charcot-Marie-Tooth disease type 2B2 [DOID:0110179] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene.
  • synonyms:
  • ICD10CM:G60.0,
  • Charcot-Marie-Tooth neuropathy type 2B2,
  • 605589,
  • CMT2B2,
  • AR-CMT2B2,
  • ORDO:101101,
  • autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2,
  • MESH:C537991,
  • Charcot-Marie-Tooth disease neuronal type 2B2,
  • ARCMT2B,
  • Autosomal recessive axonal CMT4C3,
  • OMIM:605589
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Ontology Term --> Direct parents