loading...| Preferred Name |
Amyloidosis, Hereditary, Transthyretin-Related |
| Synonyms |
hereditary transthyretin amyloidosis |
| ID |
http://purl.bioontology.org/ontology/MESH/C567782 |
| altLabel |
hereditary transthyretin amyloidosis Transthyretin Amyloidosis Familial Transthyretin Cardiac Amyloidosis Hereditary Amyloidosis, Transthyretin-Related |
| cui |
C2751492 |
| HM |
D028227 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20121105 |
| MeSH Frequency |
1099 |
| MMR |
20190116 |
| notation |
C567782 |
| prefLabel |
Amyloidosis, Hereditary, Transthyretin-Related |
| SC |
3 |
| Scope Statement |
Hereditary disorder characterized by AMYLOID DEPOSITS in the EXTRACELLULAR MATRIX of different tissues. Patients present POLYNEUROPATHY; CARPAL TUNNEL SYNDROME, autonomic insufficiency, CARDIOMYOPATHY, and gastrointestinal symptoms. A dominant mutation (V30M) in the TTR gene has been identified. OMIM: 105210 |
| TERMUI |
T811060 T000867056 T000950521 T811063 T811061 |
| TH |
NLM (2014) OMIM (2013) NLM (2019) GHR (2014) |
| tui |
T047 |