DOID:0050638

• Ontology
• Class
  • owl:Thing
    • host health status
      • disease
        • additional diseases by category
          • disease of anatomical entity
            • cardiovascular system disease
              • heart disease
                • transthyretin amyloidosis
          • disease of metabolism
            • amyloidosis
              • transthyretin amyloidosis
            • inherited metabolic disorder
              • transthyretin amyloidosis
          • genetic disease
            • inherited metabolic disorder
              • transthyretin amyloidosis
            • monogenic disease
              • autosomal genetic disease
                • autosomal dominant disease
                  • transthyretin amyloidosis
• Annotation Property
• Data Property
• Object Property
• Individual
• Datatype

• label
  • transthyretin amyloidosis ^xsd:string
• comment
  • OMIM mapping confirmed by DO. [SN]. ^xsd:string
• definition
  • 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. ^xsd:string
    • dce:type
      • obo:ECO_0007636
      • obo:ECO_0007637
      • obo:ECO_0007638
      • obo:ECO_0007645
      • obo:ECO_0007646
    • oio:hasDbXref
      • url:http://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis ^xsd:string
      • url:http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis ^xsd:string
      • url:http://www.ncbi.nlm.nih.gov/books/NBK1194/ ^xsd:string
      • url:http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451 ^xsd:string
      • url:http://www.paramiloidose.com/en/paramiloidose.php?a=2&id=25 ^xsd:string
      • url:https://www.ncbi.nlm.nih.gov/books/NBK1194/ ^xsd:string
      • url:https://www.ncbi.nlm.nih.gov/pubmed/19372706 ^xsd:string
• has exact synonym
  • Amyloidosis, hereditary, transthyretin-related ^@en
  • ATTR amyloidosis ^xsd:string
  • TTR amyloidosis ^@en
  • Familial transthyretin amyloidosis ^@en
  • familial amyloid polyneuropathy ^@en
  • paramyloidosis ^xsd:string
  • Corino de Andrade's disease ^@en
  • transthyretin-related hereditary amyloidosis ^@en
  • ATTRm amyloidosis ^xsd:string
• has_alternative_id
  • DOID:0050761 ^xsd:string
• has_obo_namespace
  • disease_ontology ^xsd:string
• id
  • DOID:0050638 ^xsd:string
• in_subset
  • obo:doid#DO_rare_slim
  • obo:doid#DO_FlyBase_slim
• oio:hasDbXref
  • ORDO:85447 ^xsd:string
  • GARD:656 ^xsd:string
  • OMIM:105210 ^xsd:string
  • ICD10CM:E85.82 ^xsd:string
• rdf:type
  • owl:Class
• rdfs:subClassOf
  • autosomal dominant disease
  • heart disease
  • inherited metabolic disorder
  • amyloidosis