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

AttributesValues
type
subClassOf
label
  • familial isolated deficiency of vitamin E
described by
id
  • DOID:0090028
database_cross_reference
  • MESH:C535393
  • NCI:C155996
  • OMIM:277460
  • ORDO:96
  • SNOMEDCT_US_2021_09_01:702442008
  • UMLS_CUI:C1848533
has_exact_synonym
  • ataxia with isolated vitamin E deficiency (en)
  • familial isolated vitamin E deficiency (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12.
is topic of
is annotatedSource of
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