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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| Preferred Name | FACTOR X DEFICIENCY | |
| Synonyms |
STUART-PROWER FACTOR DEFICIENCY F10 DEFICIENCY |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/227600 |
|
| altLabel |
STUART-PROWER FACTOR DEFICIENCY F10 DEFICIENCY
|
|
| cui |
C0015519
|
|
| Gene Locus |
13q34
|
|
| Gene Symbol |
F10
|
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU027988 http://purl.bioontology.org/ontology/OMIM/MTHU041887 http://purl.bioontology.org/ontology/OMIM/MTHU009110 http://purl.bioontology.org/ontology/OMIM/MTHU007302 http://purl.bioontology.org/ontology/OMIM/MTHU013056 http://purl.bioontology.org/ontology/OMIM/MTHU013058 http://purl.bioontology.org/ontology/OMIM/MTHU027987 http://purl.bioontology.org/ontology/OMIM/MTHU012705 http://purl.bioontology.org/ontology/OMIM/MTHU013059 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
|
| Moved from |
134530
|
|
| notation |
227600
|
|
| OMIM Entry Type |
3
|
|
| OMIM MimType Value |
pound
|
|
| prefLabel |
FACTOR X DEFICIENCY
|
|
| Scope Statement |
Intermediate levels of factor X in mildly symptomatic heterozygotes [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Caused by mutation in the coagulation factor X gene (F10, 613872.0001). [MOLECULAR BASIS] Incidence of 1 in 500,000 live births [MISCELLANEOUS]
|
|
| tui |
T047
|
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