Hermanski-Pudlak Syndrome

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

**Tree numbers:** - C11.270.040.545.400 - C15.378.100.100.515 - C15.378.100.685.400 - C15.378.140.735.400 - C15.378.463.735.400 - C16.320.099.515 - C16.320.290.040.100.400 - C16.320.565.100.102.100.400 - C16.320.850.080.100.400 - C17.800.621.440.102.100.400 - C17.800.827.080.100.400 - C18.452.648.100.102.100.400

**Synonyms:** - Hermansky-Pudlak Syndrome