# alpha-2-plasmin inhibitor deficiency

> 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

**Wikidata**: [Q27164414](https://www.wikidata.org/wiki/Q27164414)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Alpha-2-plasmin_inhibitor_deficiency)  
**Source**: https://4ort.xyz/entity/alpha-2-plasmin-inhibitor-deficiency


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Hereditary alpha 2-plasmin inhibitor deficiency caused by a transport-deficient mutation (alpha 2-PI-Okinawa). Deletion of Glu137 by a trinucleotide deletion blocks intracellular transport.
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/a8fa2353-ff89-41f1-b030-bde64517edbb--2020-09-23T16:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8fa2353-ff89-41f1-b030-bde64517edbb-2020-09-23T160000.000Z)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)