loading...| Preferred Name |
PROTHROMBIN DEFICIENCY, CONGENITAL |
|
| Synonyms |
DYSPROTHROMBINEMIA |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/613679 |
|
| altLabel |
DYSPROTHROMBINEMIA HYPOPROTHROMBINEMIA |
|
| cui |
C0272317 |
|
| Gene Locus |
11p11-q12 |
|
| Gene Symbol |
F2 THPH1 RPRGL2 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU009110 http://purl.bioontology.org/ontology/OMIM/MTHU039595 http://purl.bioontology.org/ontology/OMIM/MTHU039596 http://purl.bioontology.org/ontology/OMIM/MTHU006824 http://purl.bioontology.org/ontology/OMIM/MTHU069111 http://purl.bioontology.org/ontology/OMIM/MTHU039594 http://purl.bioontology.org/ontology/OMIM/MTHU000436 http://purl.bioontology.org/ontology/OMIM/MTHU009112 http://purl.bioontology.org/ontology/OMIM/MTHU024478 http://purl.bioontology.org/ontology/OMIM/MTHU039599 http://purl.bioontology.org/ontology/OMIM/MTHU024479 http://purl.bioontology.org/ontology/OMIM/MTHU006269 http://purl.bioontology.org/ontology/OMIM/MTHU037874 http://purl.bioontology.org/ontology/OMIM/MTHU009692 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
613679 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
PROTHROMBIN DEFICIENCY, CONGENITAL |
|
| Scope Statement |
Prevalence of true hypoprothrombinemia is 1 in 2 million [MISCELLANEOUS] Some heterozygous carriers may have mild manifestations [MISCELLANEOUS] Onset at birth [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Bleeding after trauma or surgery [MISCELLANEOUS] Caused by mutation in the coagulation factor II gene (F2, 176930.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |