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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease platelet storage pool deficiency
Comorbidity C0005818|thrombocytopathy
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PubMedID- 21800040 For example, thrombocytopathy as result of platelet dense granule deficiency occurs in children with oculocutaneous albinism in hermansky–pudlak syndrome or chediak–higashi syndrome.

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