loading...| Preferred Name |
transthyretin amyloidosis |
|
| Synonyms |
ATTRm amyloidosis ATTR amyloidosis paramyloidosis Amyloidosis, hereditary, transthyretin-related |
|
| Definitions |
OMIM mapping confirmed by DO. [SN]. 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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0050638 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
OMIM:105210 ICD10CM:E85.82 GARD:656 ORDO:85447 |
|
| 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. |
|
| disease has location | ||
| has exact synonym |
ATTRm amyloidosis ATTR amyloidosis paramyloidosis Amyloidosis, hereditary, transthyretin-related transthyretin-related hereditary amyloidosis Corino de Andrade's disease TTR amyloidosis Familial transthyretin amyloidosis familial amyloid polyneuropathy |
|
| has material basis in | ||
| has_alternative_id |
DOID:0050761 |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0050638 |
|
| in_subset | ||
| label |
transthyretin amyloidosis |
|
| notation |
DOID:0050638 |
|
| prefLabel |
transthyretin amyloidosis |
|
| subClassOf |
http://purl.obolibrary.org/obo/DOID_9120 http://purl.obolibrary.org/obo/DOID_655 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0050638 | DOID | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0050638 | HHEAR | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0050638 | FNS-H | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0050638 | DOID | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0050638 | HHEAR | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0050638 | FNS-H | LOOM |