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ONTOLOGY REPORT - ANNOTATIONS


Term:transthyretin amyloidosis
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Accession:DOID:0050638 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Corino de Andrade's disease;   TTR amyloidosis;   familial transthyretin amyloidosis;   familial transthyretin cardiac amyloidosis;   hereditary amyloidosis, transthyretin-related
 narrow_synonym: AMYLOID POLYNEUROPATHY, FAMILIAL;   AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED;   FAP amyloidosis, leptomeningeal, transthyretin-related;   amyloid cardiomyopathy, transthyretin-related
 related_synonym: Amyloidosis, Hereditary, Transthyretin-Related, Modifier Of
 primary_id: MESH:C567782
 alt_id: OMIM:105210;   RDO:0015743
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transthyretin amyloidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttr transthyretin JBrowse link 18 15,532,963 15,542,180 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        acquired metabolic disease 2700
          amyloidosis 42
            transthyretin amyloidosis 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                transthyretin amyloidosis 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.