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DO Term : Charcot-Marie-Tooth disease type 1C [DOID:0110151] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13.
  • synonyms:
  • ICD10CM:G60.0,
  • CMT slow nerve conduction type C,
  • ORDO:101083,
  • HMSN1C,
  • 601098,
  • MESH:C537984,
  • HMSN IC,
  • CMT1C,
  • Charcot-Marie-Tooth neuropathy type 1C,
  • OMIM:601098,
  • neuropathy hereditary motor and sensory type 1C
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