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About: Charcot-Marie-Tooth disease recessive intermediate B     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 recessive intermediate B
described by
id
  • DOID:0110204
database_cross_reference
  • ICD10CM:G60.0
  • OMIM:613641
  • ORDO:254334
has_exact_synonym
  • autosomal recessive intermediate Charcot-Marie-Tooth disease type B (en)
  • CMTRIB (en)
  • RI-CMTB (en)
  • Charcot-Marie-Tooth neuropathy recessive intermediate B (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23.
is topic of
is annotatedSource of
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