| Metadata | |
|---|---|
| ID | DOID:2219 |
| Name | Glanzmann's thrombasthenia |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/16463284, https://www.ncbi.nlm.nih.gov/pubmed/2014236, https://www.ncbi.nlm.nih.gov/pubmed/9160670 |
| Xrefs |
SNOMEDCT_US_2023_03_01:32942005 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
BDPLT2 [EXACT] deficiency of glycoprotein complex IIb-IIIa [EXACT] deficiency of GP IIb-IIIa complex [EXACT] deficiency of platelet fibrinogen receptor [EXACT] Glanzmann thrombasthenia [EXACT] Glycoprotein IIb/IIIa defect [EXACT] platelet glycoprotein IIb-IIIa deficiency [EXACT] platelet-type bleeding disorder 2 [EXACT] thrombasthenia of Glanzmann and Naegeli [EXACT] Thrombocytasthenia [EXACT] |
| Parent Relationships |