Jump to:
loading...| Preferred Name |
FACTOR VII DEFICIENCY |
| Synonyms |
HYPOPROCONVERTINEMIA |
| ID |
http://purl.bioontology.org/ontology/OMIM/227500 |
| altLabel |
HYPOPROCONVERTINEMIA F7 DEFICIENCY |
| cui |
C0015503 |
| Gene Locus |
13q34 |
| Gene Symbol |
F7 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036809 http://purl.bioontology.org/ontology/OMIM/MTHU007302 http://purl.bioontology.org/ontology/OMIM/MTHU032016 http://purl.bioontology.org/ontology/OMIM/MTHU009110 http://purl.bioontology.org/ontology/OMIM/MTHU012705 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
227500 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
FACTOR VII DEFICIENCY |
| Scope Statement |
Variable severity [MISCELLANEOUS] Incidence of 1 in 500,000 live births [MISCELLANEOUS] Caused by mutation in the coagulation factor VII gene (F7, 613878.0001) [MOLECULAR BASIS] |
| tui |
T047 |
Create New Mapping