Thrombasthenia
Disease ID: disease_node_7383
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| Dbxref | GARD:2478, ICD10CM:D69.1, MESH:D013915, MIM:273800, NCI:C61249, ORDO:849, SNOMEDCT_US_2023_03_01:32942005, UMLS_CUI:C0040015 |
|---|---|
| Subclassof | DOID_2218 |
| Data Source | DOID, MESH |
| Synonyms | BDPLT2, Glanzmann thrombasthenia, Glycoprotein IIb/IIIa defect, Thrombocytasthenia, deficiency of GP IIb-IIIa complex, deficiency of glycoprotein complex IIb-IIIa, deficiency of platelet fibrinogen receptor, platelet glycoprotein IIb-IIIa deficiency, platelet-type bleeding disorder 2, thrombasthenia of Glanzmann and Naegeli |
| Disease Has Location | CL_0000233 |
| Mesh Id | D013915 |
| Mesh Label | Thrombasthenia |
| Mesh Subclassof | D001791, D025861, D006474 |
| Doid Label | Glanzmann's thrombasthenia |
| Doid Description | A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32. OMIM mapping confirmed by DO. [LS]. |
| Disease Node Id | disease_node_7383 |
| Doid Id | DOID_2219 |
| Label | Thrombasthenia |
- Outgoing r'ship
SUBCLASS_OFto/from Blood Platelet Disorders(ID:disease_node_1622) (Disease)