isolated delta-storage pool disease
Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.
MONDO:0100241
inherited thrombocytopenia
is_a
isolated delta-SPD
exact
isolated dense-SPD
exact
isolated dense-storage pool disease
exact