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DO Term : Charcot-Marie-Tooth disease axonal type 2V [DOID:0110178] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.
  • synonyms:
  • autosomal dominant Charcot-Marie-Tooth disease type 2V,
  • Charcot-Marie-Tooth neuropathy type 2V,
  • CMT2V,
  • 616491,
  • OMIM:616491,
  • ORDO:447964,
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2V
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