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Mondo Disease Ontology
| Preferred Name | thrombophilia due to activated protein C resistance | |
| Synonyms |
resistance, APC thrombophilia 5 thrombophilia, susceptibility to, due to factor V Leiden Pccf deficiency thrombophilia due to ACTIVATED PROTEIN C resistance Activated Protein C resistance thrombophilia due to deficiency of Activated Protein C cofactor thrombophilia due to Factor 5 Leiden Proc cofactor deficiency THPH2 APC resistance thrombophilia 2 due to activated protein C resistance thrombophilia due to activated protein C resistance |
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| Definitions |
A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0008560 |
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| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0008560 |
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| database_cross_reference |
MESH:D020016 SCTID:421527008 MEDGEN:396074 UMLS:C1861171 DOID:0111902 ICD9:289.81 OMIM:188055
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|
| definition |
A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.
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| has_exact_synonym |
thrombophilia 2 due to activated protein C resistance thrombophilia due to activated protein C resistance
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| has_related_synonym |
resistance, APC thrombophilia 5 thrombophilia, susceptibility to, due to factor V Leiden Pccf deficiency thrombophilia due to ACTIVATED PROTEIN C resistance Activated Protein C resistance thrombophilia due to deficiency of Activated Protein C cofactor thrombophilia due to Factor 5 Leiden Proc cofactor deficiency THPH2 APC resistance
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| IAO_0000233 | ||
| id |
MONDO:0008560
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|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#rare |
|
| label |
thrombophilia due to activated protein C resistance
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|
| notation |
MONDO:0008560
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| prefLabel |
thrombophilia due to activated protein C resistance
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| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C1861171 http://identifiers.org/medgen/396074 http://identifiers.org/snomedct/421527008 |
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| treeView | ||
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