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loading...| Preferred Name | Capillary Malformations, Congenital, 1 | |
| Synonyms |
Capillary Malformations |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C562760 |
|
| altLabel |
Capillary Malformations |
|
| cui |
C0340803 |
|
| Has mapping qualifier | ||
| HM |
D002196/Q000002 D054079 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20121105 |
|
| MeSH Frequency |
101 |
|
| MMR |
20160929 |
|
| notation |
C562760 |
|
| prefLabel |
Capillary Malformations, Congenital, 1 |
|
| SC |
3 |
|
| Scope Statement |
Congenital vascular malformations that usually grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. They are distinct from HEMANGIOMA, CAPILLARY and are associated with somatic mosaic mutations in the GNAQ gene. OMIM: 163000 |
|
| TERMUI |
T801437 T801438 |
|
| TH |
OMIM (2013) |
|
| tui |
T019 |
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