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DO Term : Charcot-Marie-Tooth disease axonal type 2S [DOID:0110171] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.
  • synonyms:
  • Charcot-Marie-Tooth neuropathy type 2S,
  • 616155,
  • Charcot-Marie-Tooth disease type 2S,
  • CMT2S,
  • ORDO:443073,
  • autosomal recessive axonal Charcot-Marie-Tooth type 2S,
  • OMIM:616155
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Ontology

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