Platelet-Type Bleeding Disorder 8
Disease ID: disease_node_17061
Connections displayed (default: 10).
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| Dbxref | ICD10CM:D69.8, MIM:609821, ORDO:36355 |
|---|---|
| Subclassof | DOID_0050737, DOID_2218 |
| Data Source | DOID |
| Synonyms | ADP platelet receptor P2Y12 defect, P2Y12 defect |
| Doid Label | platelet-type bleeding disorder 8 |
| Doid Description | A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q. |
| Has Symptom | SYMP_0000007 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17061 |
| Doid Id | DOID_0060692 |
| Label | Platelet-Type Bleeding Disorder 8 |
- Outgoing r'ship
HAS_SYMPTOMto/from Bleeding(ID:disease_node_21108) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Blood Platelet Disorders(ID:disease_node_1622) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)