loading...| Preferred Name | Glanzmann's thrombasthenia | |
| Synonyms |
platelet glycoprotein IIb-IIIa deficiency Glycoprotein IIb/IIIa defect thrombasthenia of Glanzmann and Naegeli deficiency of platelet fibrinogen receptor deficiency of GP IIb-IIIa complex BDPLT2 platelet-type bleeding disorder 2 Thrombocytasthenia deficiency of glycoprotein complex IIb-IIIa Glanzmann thrombasthenia |
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| Definitions |
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]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_2219 |
|
| comment |
OMIM mapping confirmed by DO. [LS]. |
|
| alternative label |
platelet glycoprotein IIb-IIIa deficiency Glycoprotein IIb/IIIa defect thrombasthenia of Glanzmann and Naegeli deficiency of platelet fibrinogen receptor deficiency of GP IIb-IIIa complex BDPLT2 platelet-type bleeding disorder 2 Thrombocytasthenia deficiency of glycoprotein complex IIb-IIIa Glanzmann thrombasthenia |
|
| database_cross_reference |
UMLS_CUI:C0040015 SNOMEDCT_US_2023_03_01:32942005 ICD10CM:D69.1 MESH:D013915 GARD:2478 MIM:273800 NCI:C61249 ORDO:849 |
|
| 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. OMIM mapping confirmed by DO. [LS]. |
|
| disease has location | ||
| has exact synonym |
platelet glycoprotein IIb-IIIa deficiency Glycoprotein IIb/IIIa defect thrombasthenia of Glanzmann and Naegeli deficiency of platelet fibrinogen receptor deficiency of GP IIb-IIIa complex BDPLT2 platelet-type bleeding disorder 2 Thrombocytasthenia deficiency of glycoprotein complex IIb-IIIa Glanzmann thrombasthenia |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:2219 |
|
| in_subset | ||
| label |
Glanzmann's thrombasthenia |
|
| notation |
DOID:2219 |
|
| note |
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]. |
|
| preferred label |
Glanzmann's thrombasthenia |
|
| prefLabel |
Glanzmann's thrombasthenia |
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| subClassOf |