Jump to:
loading...| Preferred Name | THROMBOPHILIA DUE TO THROMBIN DEFECT | |
| Synonyms |
VENOUS THROMBOEMBOLISM THROMBOPHILIA DUE TO FACTOR 2 DEFECT THROMBOSIS, PROTECTION AGAINST VENOUS THROMBOSIS THPH1 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/188050 |
|
| altLabel |
VENOUS THROMBOEMBOLISM THROMBOPHILIA DUE TO FACTOR 2 DEFECT THROMBOSIS, PROTECTION AGAINST VENOUS THROMBOSIS THPH1 |
|
| cui |
C1861172 C0042487 C3160733 |
|
| Gene Locus |
1p36.3 |
|
| Gene Symbol |
MTHFR |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU037124 http://purl.bioontology.org/ontology/OMIM/MTHU037168 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
188050 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
THROMBOPHILIA DUE TO THROMBIN DEFECT |
|
| Scope Statement |
Caused by mutation in the coagulation factor 2 gene (F2, 176930.0009) [MOLECULAR BASIS] Onset in childhood [MISCELLANEOUS] |
|
| tui |
T046 T047 T033 |
Create mapping