platelet-type bleeding disorder 16
An 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.
MONDO:0000009
inherited bleeding disorder, platelet-type
is_a
MONDO:0021181
inherited blood coagulation disorder
is_a
BDPLT16
related
bleeding disorder, platelet-type, 16
related
bleeding disorder, platelet-type, 16, autosomal dominant
exact
platelet-type bleeding disorder 16
exact