Preferred Name |
FACTOR V DEFICIENCY |
|
Synonyms |
PARAHEMOPHILIA |
|
ID |
http://purl.bioontology.org/ontology/OMIM/227400 |
|
altLabel |
PARAHEMOPHILIA LABILE FACTOR DEFICIENCY OWREN PARAHEMOPHILIA |
|
cui |
C0015499 |
|
Gene Locus |
1q23 |
|
Gene Symbol |
RPRGL1 F5 THPH2 |
|
Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU023373 http://purl.bioontology.org/ontology/OMIM/MTHU023371 http://purl.bioontology.org/ontology/OMIM/MTHU023372 |
|
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
notation |
227400 |
|
OMIM Entry Type |
3 |
|
OMIM MimType Value |
pound |
|
prefLabel |
FACTOR V DEFICIENCY |
|
Scope Statement |
Caused by mutation in the coagulation factor V gene (F5, 612309.0004) [MOLECULAR BASIS] Heterozygotes are usually asymptomatic [MISCELLANEOUS] Incidence of 1 in 1,000,000 [MISCELLANEOUS] |
|
tui |
T047 |
Create mapping