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DO Term : Charcot-Marie-Tooth disease axonal type 2U [DOID:0110173] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13.
  • synonyms:
  • CMT2U,
  • autosomal dominant Charcot-Marie-Tooth disease type 2U,
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2U,
  • 616280,
  • Charcot-Marie-Tooth neuropathy type 2U,
  • OMIM:616280,
  • ORDO:397735,
  • ICD10CM:G60.0
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Ontology

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