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loading...| Preferred Name |
THROMBOPHILIA DUE TO THROMBIN DEFECT |
| Synonyms |
THROMBOSIS, PROTECTION AGAINST |
| ID |
http://purl.bioontology.org/ontology/OMIM/188050 |
| altLabel |
THROMBOSIS, PROTECTION AGAINST THROMBOPHILIA DUE TO FACTOR 2 DEFECT VENOUS THROMBOEMBOLISM THPH1 VENOUS THROMBOSIS |
| cui |
C0042487 C3160733 C1861172 |
| Gene Locus |
1p36.3 |
| Gene Symbol |
MTHFR |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU037168 http://purl.bioontology.org/ontology/OMIM/MTHU037169 |
| 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 T033 T047 |
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