| Metadata | |
|---|---|
| ID | DOID:0050638 |
| Name | transthyretin 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. http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451, http://www.ncbi.nlm.nih.gov/books/NBK1194/, http://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis, https://www.ncbi.nlm.nih.gov/books/NBK1194/, http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis, http://www.paramiloidose.com/en/paramiloidose.php?a=2&id=25, https://www.ncbi.nlm.nih.gov/pubmed/19372706 |
| Xrefs | |
| Alternateids |
DOID:0050761 |
| Subsets |
DO_FlyBase_slim DO_rare_slim |
| Synonyms |
Amyloidosis, hereditary, transthyretin-related [EXACT] ATTR amyloidosis [EXACT] ATTRm amyloidosis [EXACT] Corino de Andrade's disease [EXACT] familial amyloid polyneuropathy [EXACT] Familial transthyretin amyloidosis [EXACT] paramyloidosis [EXACT] transthyretin-related hereditary amyloidosis [EXACT] TTR amyloidosis [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a heart disease is_a inherited metabolic disorder is_a amyloidosis |
| Subclass Logical Relationships |
disease has location some heart disease has location some nerve has material basis in some autosomal dominant inheritance |