Hermanski-Pudlak Syndrome D022861

Related MeSH Hierarchy (12)

Diseases [C] » Eye Diseases [C11] » Eye Diseases, Hereditary » Albinism » Albinism, Oculocutaneous » Hermanski-Pudlak Syndrome

Diseases [C] » Skin and Connective Tissue Diseases [C17] » Skin Diseases » Skin Diseases, Genetic » Albinism » Albinism, Oculocutaneous » Hermanski-Pudlak Syndrome

Description

Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.   MeSH


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