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About: transthyretin amyloidosis     Goto   Sponge   NotDistinct   Permalink

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

OMIM mapping confirmed by DO. [SN].

AttributesValues
type
subClassOf
label
  • transthyretin amyloidosis
comment
  • OMIM mapping confirmed by DO. [SN].
described by
id
  • DOID:0050638
has_alternative_id
  • DOID:0050761
database_cross_reference
  • GARD:656
  • ICD10CM:E85.82
  • OMIM:105210
  • ORDO:85447
has_exact_synonym
  • ATTR amyloidosis
  • ATTRm amyloidosis
  • Amyloidosis, hereditary, transthyretin-related (en)
  • Corino de Andrade's disease (en)
  • Familial transthyretin amyloidosis (en)
  • TTR amyloidosis (en)
  • familial amyloid polyneuropathy (en)
  • paramyloidosis
  • transthyretin-related hereditary amyloidosis (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.
is topic of
is annotatedSource of
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