Isolated delta-storage pool disease
Name: |
Isolated delta-storage pool disease
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Description: |
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.
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ORPHAcode: |
248340
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Synonyms: |
Isolated delta-SPD
Isolated dense-SPD
Isolated dense-storage pool disease
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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