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About: Charcot-Marie-Tooth disease axonal type 2C     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • Charcot-Marie-Tooth disease axonal type 2C
described by
id
  • DOID:0110182
database_cross_reference
  • ICD10CM:G60.0
  • OMIM:606071
  • ORDO:99937
has_exact_synonym
  • CMT2C (en)
  • Charcot-Marie-Tooth neuropathy type 2C (en)
  • HMSN2C (en)
  • hereditary motor and sensory neuropathy type IIc (en)
  • autosomal dominant Charcot-Marie-Tooth disease type 2C (en)
  • autosomal cominant axonal Charcot-Marie-Tooth disease type 2C (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.
is topic of
is annotatedSource of
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