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 | |
Subsets |
DO_rare_slim |
Synonyms |
antiplasmin defiency [EXACT] plasmin inhibitor deficiency [EXACT] |
Parent Relationships |
is_a hemorrhagic disease |