FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Glanzmann's thrombasthenia ID (Ontology) DOID:2219 (Human Disease)
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.
Also Known As "BDPLT2" ; "deficiency of glycoprotein complex IIb-IIIa" ; "deficiency of GP IIb-IIIa complex" (for all, see Synonyms field below)
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 Genes
 Glanzmann's thrombasthenia       1
 for disease ribbon | Glanzmann's thrombasthenia       1
 model of | Glanzmann's thrombasthenia       1
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  blood coagulation disease
   |__blood platelet disease
       |__Glanzmann's thrombasthenia  1 rec.
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Is a blood platelet disease
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Synonyms
  • "BDPLT2" EXACT OMO:0003012
    "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
Secondary IDs
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GARD:2478
ICD10CM:D69.1
MESH:D013915
MIM:273800
NCI:C61249
ORDO:849
SNOMEDCT_US_2023_03_01:32942005
UMLS_CUI:C0040015