Matches in DBpedia 2014 for { ?s ?p Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).It is considered to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans, with a prevalence of 1 in 1800. Many of the clinical research studies on the disease have been conducted in Puerto Rico.There are eight classic forms of the disorder, based on the genetic mutation from which the disorder stems.A ninth type has also been described. This last type is due to a mutation in the gene Pallidin (PLDN).. }
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- Hermansky–Pudlak_syndrome abstract "Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).It is considered to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans, with a prevalence of 1 in 1800. Many of the clinical research studies on the disease have been conducted in Puerto Rico.There are eight classic forms of the disorder, based on the genetic mutation from which the disorder stems.A ninth type has also been described. This last type is due to a mutation in the gene Pallidin (PLDN).".