Transthyretin Amyloidosis
Disease ID: disease_node_17489
Connections displayed (default: 10).
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| Dbxref | GARD:656, ICD10CM:E85.82, MIM:105210, ORDO:85447 |
|---|---|
| Subclassof | DOID_0050736, DOID_655, DOID_9120, DOID_114 |
| Data Source | DOID |
| Synonyms | ATTR amyloidosis, ATTRm amyloidosis, Amyloidosis, hereditary, transthyretin-related, Corino de Andrade's disease, Familial transthyretin amyloidosis, TTR amyloidosis, familial amyloid polyneuropathy, paramyloidosis, transthyretin-related hereditary amyloidosis |
| Disease Has Location | UBERON_0000948, UBERON_0001021 |
| Doid Label | transthyretin amyloidosis |
| Doid Description | 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 domit inheritance of mutations in the TTR gene. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17489 |
| Doid Id | DOID_0050638 |
| Label | Transthyretin Amyloidosis |
| Doid Alternate Ids | DOID_0050761 |
- Outgoing r'ship
SUBCLASS_OFto/from Metabolism, Inborn Errors(ID:disease_node_5171) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Heart Diseases(ID:disease_node_3722) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Amyloidosis(ID:disease_node_1155) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)