platelet-type bleeding disorder 19
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
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
SPBC106.10