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alpha-2-plasmin inhibitor deficiency
Summary
- Synonym
-
- antiplasmin defiency
- plasmin inhibitor deficiency
- 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.
- Super Class
- autosomal recessive disease hemorrhagic disease
External Links
- Disease Ontology
- DOID:0060601
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
