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DO Term : Charcot-Marie-Tooth disease axonal type 2P [DOID:0110169] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33.
  • synonyms:
  • ORDO:300319,
  • 614436,
  • Charcot-Marie-Tooth disease type 2P,
  • GARD:12435,
  • CMT2P,
  • ICD10CM:G60.0,
  • Charcot-Marie-Tooth neuropathy type 2P,
  • OMIM:614436
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