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DO Term : Charcot-Marie-Tooth disease axonal type 2T [DOID:0110160] 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 MME gene on chromosome 3q25.
  • synonyms:
  • CMT2T,
  • Charcot-Marie-Tooth neuropathy type 2T,
  • autosomal recessive axonal Charcot-Marie-Tooth disease type 2T,
  • 617017,
  • OMIM:617017,
  • ORDO:443950,
  • ICD10CM:G60.0,
  • AR-CMT2T
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Disease

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Ontology

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Ontology Term --> Direct parents