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loading...| Preferred Name |
Cutis Gyrata Syndrome of Beare And Stevenson |
| Synonyms |
Cutis Gyrata Syndrome of Beare-Stevenson |
| ID |
http://purl.bioontology.org/ontology/MESH/C565129 |
| altLabel |
Cutis Gyrata Syndrome of Beare-Stevenson Beare-Stevenson Cutis Gyrata Syndrome |
| cui |
C1852406 |
| Has mapping qualifier | |
| HM |
D004423/Q000002 D012536 D000052 D003398 D012868 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D012868 http://purl.bioontology.org/ontology/MESH/D000052 http://purl.bioontology.org/ontology/MESH/D003398 |
| MDA |
20121105 |
| MeSH Frequency |
9 |
| MMR |
20131024 |
| notation |
C565129 |
| prefLabel |
Cutis Gyrata Syndrome of Beare And Stevenson |
| SC |
3 |
| Scope Statement |
mutation in FGFR2 |
| TERMUI |
T830694 T806207 T840988 |
| TH |
OMIM (2013) GHR (2014) |
| tui |
T047 |