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Platelet-type bleeding disorder 16
rareAn inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.
- Identifiers
- MONDO:0008552 OMIM:187800
- Causal genes
- ITGA2B
- Part of
- Autosomal dominant diseaseInherited bleeding disorder, platelet-typeInherited blood coagulation disorder
- Also known as
- BDPLT16 · bleeding disorder, platelet-type, 16 · bleeding disorder, platelet-type, 16, autosomal dominant
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