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loading...| Preferred Name |
Capillary Malformation-Arteriovenous Malformation |
| Synonyms |
Capillary Malformation Without Arteriovenous Malformation |
| ID |
http://purl.bioontology.org/ontology/MESH/C564254 |
| altLabel |
Capillary Malformation Without Arteriovenous Malformation Capillary Malformation-Arteriovenous Malformation Syndrome Cm-Avm |
| cui |
C2675370 C1842180 |
| Has mapping qualifier | |
| HM |
D002196/Q000002 D019339 D001165 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D002196 |
| MDA |
20121105 |
| MeSH Frequency |
27 |
| MMR |
20160929 |
| notation |
C564254 |
| prefLabel |
Capillary Malformation-Arteriovenous Malformation |
| SC |
3 |
| Scope Statement |
Congenital capillary and arteriovenous anomalies associated with Port-Wine-Stain. Caused by mutations in the P120 GTPASE ACTIVATING PROTEIN (RASA1) gene. OMIM: 608354 |
| TERMUI |
T841068 T809993 T804486 T841067 |
| TH |
OMIM (2013) GHR (2014) |
| tui |
T047 |
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