Cell Culture Ontology - thrombophilia due to activated protein C resistance - Classes | NCBO BioPortal

Cell Culture Ontology

Last uploaded: July 23, 2014

Preferred Name	thrombophilia due to activated protein C resistance
Synonyms	Activated Protein C resistance Proc cofactor deficiency Pccf deficiency thrombophilia due to deficiency of Activated Protein C cofactor thrombophilia 5 thrombophilia due to ACTIVATED PROTEIN C resistance thrombophilia due to Factor 5 Leiden thrombophilia, susceptibility to, due to factor V Leiden resistance, APC APC resistance THPH2 thrombophilia 2 due to activated protein C resistance thrombophilia due to activated protein C resistance
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.
ID	http://purl.obolibrary.org/obo/MONDO_0008560
curated_content_resource	https://search.clinicalgenome.org/kb/conditions/MONDO:0008560
database_cross_reference	OMIM:188055 ICD9:289.81 UMLS:C1861171 MESH:D020016 MEDGEN:396074 SCTID:421527008 DOID:0111902
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.
has_exact_synonym	thrombophilia 2 due to activated protein C resistance thrombophilia due to activated protein C resistance
has_related_synonym	Activated Protein C resistance Proc cofactor deficiency Pccf deficiency thrombophilia due to deficiency of Activated Protein C cofactor thrombophilia 5 thrombophilia due to ACTIVATED PROTEIN C resistance thrombophilia due to Factor 5 Leiden thrombophilia, susceptibility to, due to factor V Leiden resistance, APC APC resistance THPH2
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4521
id	MONDO:0008560
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare
label	thrombophilia due to activated protein C resistance
notation	MONDO:0008560
preferred label	thrombophilia due to activated protein C resistance
prefLabel	thrombophilia due to activated protein C resistance
skos_exactMatch	http://linkedlifedata.com/resource/umls/id/C1861171 https://omim.org/entry/188055 http://identifiers.org/medgen/396074 http://identifiers.org/snomedct/421527008 http://purl.obolibrary.org/obo/DOID_0111902 http://identifiers.org/mesh/D020016
subClassOf	http://purl.obolibrary.org/obo/MONDO_0100240 http://purl.obolibrary.org/obo/MONDO_0002242

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0008560	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008560	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008560	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008560	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0111902	DOID	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C566056	RH-MESH	LOOM
http://identifiers.org/omim/188055	REXO	LOOM
http://identifiers.org/omim/188055	GEXO	LOOM
http://identifiers.org/omim/188055	RETO	LOOM
http://purl.bioontology.org/ontology/MESH/C566056	MESH	LOOM
http://purl.obolibrary.org/obo/OMIM_188055	CCO	LOOM
http://purl.bioontology.org/ontology/OMIM/188055	OMIM	LOOM
http://purl.obolibrary.org/obo/MONDO_0008560	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0008560	EFO	LOOM
http://purl.obolibrary.org/obo/DOID_0111902	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0111902	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0111902	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0111902	FNS-H	LOOM