Preferred Name |
Thrombophilia, hereditary |
|
Synonyms |
|
|
ID |
http://purl.bioontology.org/ontology/MESH/C540694 |
|
cui |
C2584620 |
|
HM |
D019851 |
|
Inverse of RB |
0 |
|
Mapped to | ||
MDA |
20100825 |
|
MeSH Frequency |
378 |
|
MMR |
20150818 |
|
notation |
C540694 |
|
prefLabel |
Thrombophilia, hereditary |
|
SC |
3 |
|
Scope Statement |
Thrombophilia due to congenital factors. Germline mutations in the F5 gene have been identified for Protein C/Factor V Leiden (OMIM: 188055), in the HRG gene for histidine-rich glycoprotein deficiency (OMIM: 613116); PROC gene for PROTEIN C DEFICIENCY (OMIM: 176860); and the PROS1 gene for PROTEIN S DEFICIENCY (OMIM: 612336) |
|
TERMUI |
T751419 |
|
TH |
ORD (2010) |
|
tui |
T047 |
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