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Hermanski-Pudlak Syndrome

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

Year introduced: 2001

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Tree Number(s): 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., C16.320.565., C16.320.850.080.100.400, C17.800.621.440.102.100.400, C17.800.827.080.100.400, C18.452.648.

MeSH Unique ID: D022861

Entry Terms:

  • Hermanski Pudlak Syndrome
  • Hermansky-Pudlak Syndrome
  • Hermansky Pudlak Syndrome

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