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Hermanski-Pudlak Syndrome

More information in Books or onNLM PubMed
Definition: Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.      Other names Hermansky Pudlak Syndrome; Hermanski Pudlak Syndrome; Hermansky-Pudlak Syndrome
 
SubstanceCAS Registry & nameCategoriesSource
ruby-eye 2 protein, mouse  0   *Proteins Hermanski-Pudlak Syndrome. Zoolog Sci. 2011 Nov;28(11):790-801
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells  0   *Albinism *Hemorrhagic Disorders *Hermanski-Pudlak Syndrome.
Hermansky Pudlak syndrome 2  0   *Hermanski-Pudlak Syndrome.
Kotzot-Richter syndrome  0   *Immunologic Deficiency Syndromes *Hermanski-Pudlak Syndrome.
HPS4 protein, human  0   *Proteins Hermanski-Pudlak Syndrome. Nat Genet 2002 Mar;30(3):321-4
AP3B1 protein, human  0   *Adaptor Protein Complex 3 *Adaptor Protein Complex beta Subunits Hermanski-Pudlak Syndrome. Am J Hum Genet 2001 Nov;69(5):1022-32

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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