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DO Term : Charcot-Marie-Tooth disease type 4B2 [DOID:0110190] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene.
  • synonyms:
  • MESH:C535421,
  • GARD:9200,
  • OMIM:604563,
  • 604563,
  • ORDO:99956,
  • Charcot-Marie-Tooth neuropathy type 4B2,
  • CMT4B2,
  • ICD10CM:G60.0,
  • autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2
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