Disease Information

GTO ID(s) GTC0491 | GTC0460 | GTC2229 | GTC2789 | GTC2274 | GTC1853 | GTC0471 | GTC2656
Disease NameTransthyretin Amyloidosis
Synonymstransthyretin amyloidosis, familial amyloid neuropathy, amyloidosis, hereditary, transthyretin-related, hereditary amyloidosis, transthyretin-related, amyloidosis, leptomeningeal, transthyretin-related, amyloid cardiomyopathy, transthyretin-related, attrv30m amyloidosis
DefinitionDO: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.
Xref DO:0050638 | MIM:105210 | EFO:0004129 | GARD:656 | MONDO:0007100 | MSH:C567782 | OMIM:105210 | ORDO:85447
Disease GroupGenetic Disease

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