Preferred Name |
Cutis Gyrata Syndrome of Beare And Stevenson |
|
Synonyms |
Beare-Stevenson Cutis Gyrata Syndrome |
|
ID |
http://purl.bioontology.org/ontology/MESH/C565129 |
|
altLabel |
Beare-Stevenson Cutis Gyrata Syndrome Cutis Gyrata Syndrome of Beare-Stevenson |
|
cui |
C1852406 |
|
Has mapping qualifier | ||
HM |
D012536 D004423/Q000002 D003398 D000052 D012868 |
|
Inverse of RB |
0 |
|
Mapped to |
http://purl.bioontology.org/ontology/MESH/D012536 http://purl.bioontology.org/ontology/MESH/D000052 http://purl.bioontology.org/ontology/MESH/D004423 |
|
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 |
T806207 T830694 T840988 |
|
TH |
OMIM (2013) GHR (2014) |
|
tui |
T047 |
Create mapping