| General Information | ||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Term | transthyretin amyloidosis | ID (Ontology) | DOID:0050638 (Human Disease) | |||||||||||||||||||||||||||
| 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. | |||||||||||||||||||||||||||||
| Also Known As | "Amyloidosis, hereditary, transthyretin-related" ; "ATTR amyloidosis" ; "ATTRm amyloidosis" (for all, see Synonyms field below) | |||||||||||||||||||||||||||||
| Comment | ||||||||||||||||||||||||||||||
| Links to External Ontologies | ||||||||||||||||||||||||||||||
| DO.org | ||||||||||||||||||||||||||||||
| Annotations | ||||||||||||||||||||||||||||||
| Records annotated with this term OR any of its CHILD TERMS | ||||||||||||||||||||||||||||||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
||||||||||||||||||||||||||||||
|
||||||||||||||||||||||||||||||
|
||||||
disease of metabolism |__inherited metabolic disorder__ |__amyloidosis___________________| autosomal genetic disease | |__autosomal dominant disease____| thoracic disease | |__heart disease_________________| cardiovascular system disease | |__heart disease_________________| genetic disease | |__inherited metabolic disorder__| transthyretin amyloidosis 24 rec. |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal dominant disease heart disease inherited metabolic disorder amyloidosis |
||
| Part of | |||
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
External Crossreferences & Linkouts
|
|||
|
GARD:656 ICD10CM:E85.82 MIM:105210 ORDO:85447 |
|||