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DO Term : Charcot-Marie-Tooth disease axonal type 2L [DOID:0110174] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene.
  • synonyms:
  • 608673,
  • autosomal dominant Charcot-Marie-Tooth disease type 2L,
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2L,
  • ORDO:99945,
  • OMIM:608673,
  • CMT2L,
  • ICD10CM:G60.0,
  • Charcot-Marie-Tooth neuropathy axonal type 2L
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