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Isolated delta-storage pool disease
rareIsolated 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.
- Identifiers
- MONDO:0016630 Orphanet:248340
- Part of
- Inherited thrombocytopenia
- Also known as
- isolated delta-SPD · isolated dense-SPD · isolated dense-storage pool disease
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