GTO ID(s) | GTC2306 | GTC0228 | GTC0275 | GTC2328 | GTC2217 | GTC0159 | GTC0211 | GTC0671 | GTC2807 | GTC2486 | GTC3291 | GTC3149 | GTC2218 | GTC0695 | GTC0580 | GTC3705 |
Disease Name | Transthyretin Amyloid Cardiomyopathy |
Synonyms | transthyretin amyloidosis, familial amyloid neuropathy, amyloidosis, hereditary, transthyretin-related, amyloidosis, leptomeningeal, transthyretin-related, amyloid cardiomyopathy, transthyretin-related, attrv30m amyloidosis |
Definition | DO: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 | OMIM:105210 | ORDO:85447 |
Disease Group | Genetic Disease |