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loading...| Preferred Name |
Aortic Valve, Calcification of |
|
| Synonyms |
Aortic Stenosis, Calcific |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C562942 |
|
| altLabel |
Aortic Stenosis, Calcific |
|
| cui |
C0428791 |
|
| Has mapping qualifier | ||
| HM |
D001024 D001021/Q000473 D002114 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D002114 |
|
| MDA |
20121105 |
|
| MeSH Frequency |
956 |
|
| MMR |
20150817 |
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| notation |
C562942 |
|
| prefLabel |
Aortic Valve, Calcification of |
|
| SC |
3 |
|
| Scope Statement |
Condition where calcium deposits form on the aortic valve and is often observed in younger patients with bicuspid aortic valve (OMIM: 109730), as a result of inappropriate activation of OSTEOBLAST-specific gene expression. Germline mutations in the NOTCH1 gene have been identified. |
|
| TERMUI |
T827522 T801869 |
|
| TH |
OMIM (2013) |
|
| tui |
T047 |
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