Hermanski-Pudlak Syndrome

Source:http://linkedlifedata.com/resource/umls/id/C0079504

MSH: Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.,NCI: A group of autosomal recessive inherited disorders characterized by albinism, bleeding tendency, and lung disorders such as pulmonary fibrosis.

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