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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Subheadings:
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, C16.320.290.040.100.400, 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
MeSH Unique ID: D022861
Entry Terms:
- Hermanski Pudlak Syndrome
- Hermansky-Pudlak Syndrome
- Hermansky Pudlak Syndrome
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