| 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 |
| Subclass Logical Relationships |
has symptom some bleeding has material basis in some autosomal recessive inheritance |