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Disease core ontology applied to Rare Diseases
Last uploaded:
February 7, 2014
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| Preferred Name | Congenital factor XI deficiency | |
| Synonyms |
Rosenthal syndrome Plasma thromboplastin antecedent deficiency Hemophilia C PTA deficiency Rosenthal factor deficiency |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_4511 |
|
| ageOfDeath |
Normal
|
|
| ageOfOnset |
Variable
|
|
| altLabel |
Rosenthal syndrome Plasma thromboplastin antecedent deficiency Hemophilia C PTA deficiency Rosenthal factor deficiency
|
|
| id_Medline |
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=factor+xi+deficiency%5Bmajr%5D |
|
| id_MIM |
612416
|
|
| id_OMS |
D68.1
|
|
| id_Orpha |
329
|
|
| inheritance |
Autosomal dominant Autosomal recessive
|
|
| patType |
disease
|
|
| prefixIRI |
hrdo:pat_id_4511
|
|
| prefLabel |
Congenital factor XI deficiency
|
|
| prevalence |
1-9 / 1 000 000
|
|
| subClassOf |
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