| Term Name: | hereditary systemic amyloidosis 1 |
|---|---|
| Synonyms: | Amyloidosis, hereditary, transthyretin-related, ATTR amyloidosis, ATTRm amyloidosis, Corino de Andrade's disease, familial amyloid polyneuropathy, Familial transthyretin amyloidosis, paramyloidosis, transthyretin amyloidosis, transthyretin-related hereditary amyloidosis, TTR amyloidosis |
| 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. |
| Ontology: | Human Disease [DOID:0050638] ( DOID:0050638 ) |