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Metadata
ID DOID:0060601
Name alpha-2-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.
https://www.ncbi.nlm.nih.gov/pubmed/11472338, https://www.ncbi.nlm.nih.gov/pubmed/156196
Xrefs

ICD10CM:D68.8

OMIM:262850

ORDO:79

Synonyms

antiplasmin defiency [EXACT]

plasmin inhibitor deficiency [EXACT]

Parent Relationships

is_a hemorrhagic disease

is_a autosomal recessive disease

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