OBO ID: DOID:2219
Term Name: Glanzmann's thrombasthenia Search Ontology:
Synonyms:
  • BDPLT2
  • deficiency of glycoprotein complex IIb-IIIa
  • deficiency of GP IIb-IIIa complex
  • deficiency of platelet fibrinogen receptor
  • Glanzmann thrombasthenia
  • Glycoprotein IIb/IIIa defect
  • platelet glycoprotein IIb-IIIa deficiency
  • platelet-type bleeding disorder 2
  • thrombasthenia of Glanzmann and Naegeli
  • Thrombocytasthenia
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. (3)
References:
  • GARD:2478
  • ICD10CM:D69.1
  • MESH:D013915
  • NCI:C61249
  • OMIM:273800
  • ORDO:849
  • SNOMEDCT_US_2023_03_01:32942005
  • UMLS_CUI:C0040015
Ontology: Human Disease   ( DOID:2219 )
Relationships
is a type of:
OTHER Glanzmann's thrombasthenia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ITGA2B Glanzmann thrombasthenia 1 273800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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