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DO Term : Charcot-Marie-Tooth disease axonal type 2N [DOID:0110177] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21.
  • synonyms:
  • ORDO:228174,
  • OMIM:613287,
  • CMT2N,
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2N,
  • autosomal dominant Charcot-Marie-Tooth disease type 2N,
  • 613287,
  • Charcot-Marie-Tooth neuropathy axonal type 2N,
  • ICD10CM:G60.0
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Disease

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Ontology

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Ontology Term --> Direct parents





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