platelet-type bleeding disorder 19
BDPLT19
exact
PRKACG isolated hereditary giant platelet disorder
exact
bleeding disorder, platelet-type, 19
related
isolated hereditary giant platelet disorder caused by mutation in PRKACG
exact
severe autosomal recessive macrothrombocytopenia
exact
Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.
MONDO:0000009
inherited bleeding disorder, platelet-type
is_a
SPBC106.10