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Echinobase
Summary Literature (0)
DOID:0111902 - thrombophilia due to activated protein C resistance

Disease Ontology Definition:A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2.

Synonyms: APC resistance, PCCF deficiency, PROC cofactor deficiency, THPH2, activated protein C resistance, thrombophilia V, thrombophilia due to deficiency of activated protein C cofactor,

Echinobase Genes :


OMIM:
MIM:188055 - thrombophilia due to activated protein c resistance; thph2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), thrombophilia (is_a)