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DO Term : Charcot-Marie-Tooth disease type 2B [DOID:0110159] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21.
  • synonyms:
  • HMSN IIB,
  • hereditary motor and sensory nueropathy IIB,
  • MESH:C537989,
  • Charcot-Marie-Tooth neuropathy type 2B,
  • 600882,
  • ORDO:99936,
  • OMIM:600882,
  • HMSN2B,
  • ICD10CM:G60.0,
  • autosomal dominant Charcot-Marie-Tooth disease type 2B,
  • CMT2B,
  • GARD:9192
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