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Echinobase
Summary Literature (0)
DOID:0060601 - alpha-2-plasmin inhibitor deficiency

Disease Ontology Definition:A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes.

Synonyms: antiplasmin defiency, plasmin inhibitor deficiency

Echinobase Genes :


MIM:
MIM:262850 - alpha-2-plasmin inhibitor deficiency

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

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