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loading...| Preferred Name |
Uhl anomaly |
|
| Synonyms |
Parchment right ventricle |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C536932 |
|
| altLabel |
Parchment right ventricle Uhl's anomaly |
|
| cui |
C0265857 |
|
| HM |
D002311 D006330 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
26 |
|
| MMR |
20160929 |
|
| notation |
C536932 |
|
| prefLabel |
Uhl anomaly |
|
| SC |
3 |
|
| Scope Statement |
A congenital heart defect that affects the right ventricle. It is characterized by cardiomyopathy and fibrofatty replacement of the right ventricular MYOCARDIUM, resulting in ventricular arrhythmia and increased risk for sudden cardiac death. It is caused by mutations in the TRANSFORMING GROWTH FACTOR BETA3 (TGFB3) gene. OMIM: 107970 |
|
| TERMUI |
T740920 T740919 T740918 |
|
| TH |
OMIM (2013) ORD (2010) |
|
| tui |
T019 |
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