Alpha-2-Plasmin Inhibitor Deficiency
Disease ID: disease_node_19431
Connections displayed (default: 10).
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| Dbxref | ICD10CM:D68.8, MIM:262850, ORDO:79 |
|---|---|
| Subclassof | DOID_2213, DOID_0050737 |
| Data Source | DOID |
| Synonyms | antiplasmin defiency, plasmin inhibitor deficiency |
| Doid Label | alpha-2-plasmin inhibitor deficiency |
| Doid Description | 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. |
| Has Symptom | SYMP_0000007 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19431 |
| Doid Id | DOID_0060601 |
| Label | Alpha-2-Plasmin Inhibitor Deficiency |
- Outgoing r'ship
HAS_SYMPTOMto/from Bleeding(ID:disease_node_21108) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Hemorrhagic Disorders(ID:disease_node_3846) (Disease)