Platelet-Type Bleeding Disorder 20
Disease ID: disease_node_17057
Connections displayed (default: 10).
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| Dbxref | MIM:616913, ORDO:466806 |
|---|---|
| Subclassof | DOID_0050736, DOID_2218 |
| Data Source | DOID |
| Synonyms | BDPLT20, autosomal dominant thrombocytopenia with platelet secretion defect |
| Doid Label | platelet-type bleeding disorder 20 |
| Doid Description | A blood platelet disease characterized by autosomal domit inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12. |
| Has Symptom | SYMP_0000007 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17057 |
| Doid Id | DOID_0111055 |
| Label | Platelet-Type Bleeding Disorder 20 |
- 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 Domit Disease(ID:disease_node_13255) (Disease)