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Medical Imaging and Diagnostic Ontology
Last uploaded:
April 25, 2022
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| 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]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_2219 |
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| comment |
OMIM mapping confirmed by DO. [LS].
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| database_cross_reference |
SNOMEDCT_US_2021_09_01:32942005 ICD10CM:D69.1 OMIM:273800 NCI:C61249 GARD:2478 MESH:D013915 UMLS_CUI:C0040015 ORDO:849
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| 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].
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| 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
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| has_obo_namespace |
disease_ontology
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| IAO_0000115 |
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.
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| id |
DOID:2219
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| in_subset | ||
| label |
Glanzmann's thrombasthenia
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| notation |
DOID:2219
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| 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].
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| prefLabel |
Glanzmann's thrombasthenia
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| subClassOf |
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