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Digital medicine Outcomes Value Set (DOVeS) Ontology
| Preferred Name | congenital factor XI deficiency | |
| Synonyms |
factor XI deficiency factor 11 deficiency F11 deficiency hereditary factor XI deficiency disease Rosenthal syndrome factor XI deficiency, autosomal recessive hereditary Factor XI deficiency factor XI deficiency, autosomal dominant Rosenthal's disease Rosenthal factor deficiency congenital factor XI deficiency hemophilia C plasma thromboplastin antecedent deficiency PTA deficiency hereditary factor XI deficiency |
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| Definitions |
Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0012897 |
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| altLabel |
factor XI deficiency factor 11 deficiency F11 deficiency hereditary factor XI deficiency disease Rosenthal syndrome factor XI deficiency, autosomal recessive hereditary Factor XI deficiency factor XI deficiency, autosomal dominant Rosenthal's disease Rosenthal factor deficiency congenital factor XI deficiency hemophilia C plasma thromboplastin antecedent deficiency PTA deficiency hereditary factor XI deficiency
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|
| definition |
Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.
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| has_exact_synonym |
hereditary factor XI deficiency disease Rosenthal syndrome factor XI deficiency, autosomal recessive hereditary Factor XI deficiency factor XI deficiency, autosomal dominant Rosenthal's disease Rosenthal factor deficiency congenital factor XI deficiency hemophilia C plasma thromboplastin antecedent deficiency PTA deficiency hereditary factor XI deficiency
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| has_related_synonym |
factor XI deficiency factor 11 deficiency F11 deficiency
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| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/5537 |
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| label |
congenital factor XI deficiency
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| prefixIRI |
MONDO:0012897
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| prefLabel |
congenital factor XI deficiency
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/9670/factor-xi-deficiency |
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| textual definition |
Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020587 http://purl.obolibrary.org/obo/MONDO_0000429 http://purl.obolibrary.org/obo/MONDO_0002243 |
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