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loading...| Preferred Name |
FACTOR V DEFICIENCY |
| Synonyms |
OWREN PARAHEMOPHILIA |
| ID |
http://purl.bioontology.org/ontology/OMIM/227400 |
| altLabel |
OWREN PARAHEMOPHILIA LABILE FACTOR DEFICIENCY PARAHEMOPHILIA |
| cui |
C0015499 |
| Gene Locus |
1q23 |
| Gene Symbol |
THPH2 F5 RPRGL1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU023372 http://purl.bioontology.org/ontology/OMIM/MTHU023370 http://purl.bioontology.org/ontology/OMIM/MTHU023371 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
227400 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
FACTOR V DEFICIENCY |
| Scope Statement |
Heterozygotes are usually asymptomatic [MISCELLANEOUS] Incidence of 1 in 1,000,000 [MISCELLANEOUS] Caused by mutation in the coagulation factor V gene (F5, 612309.0004) [MOLECULAR BASIS] |
| tui |
T047 |
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