isolated delta-storage pool disease
MONDO:0016630Mondo
Findings
No curated finding names isolated delta-storage pool disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0016630), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
3 names
Resolves to: isolated delta-storage pool disease
- Also called
- isolated delta-SPDisolated dense-SPDisolated dense-storage pool disease