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Glanzmann thrombasthenia 1

Disease Summary
Associated Targets (2)
Tclin

2


GARD Rare
Mondo Description A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia
Disease Ontology Description An inherited 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.
Mondo Term and Equivalent IDs
MONDO:0031332:  Glanzmann thrombasthenia 1
GARD:0002478: 
MESH:D013915: 
NCIT:C61249: 
Orphanet:849: 
SCTID:32942005: