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- Q594013 subject Q6500135.
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- Q594013 subject Q7031586.
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- Q594013 subject Q8280463.
- Q594013 abstract "Prader–Willi syndrome (/ˈprɑːdər ˈvɪli/; abbreviated PWS) is a rare genetic disorder in which seven genes (or some subset thereof) on chromosome 15 (q 11–13) are deleted or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. It was first described in 1956 by Andrea Prader (1919–2001), Heinrich Willi (1900–1971), Alexis Labhart (1916–1994), Andrew Ziegler, and Guido Fanconi of Switzerland. Characteristic of PWS is "low muscle tone, short stature, incomplete sexual development, cognitive disabilities, behavior problems, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity." The incidence of PWS is between 1 in 25,000 and 1 in 10,000 live births.The paternal origin of the genetic material that is affected in the syndrome is important because the particular region of chromosome 15 involved is subject to parent-of-origin imprinting, meaning that for a number of genes in this region, only one copy of the gene is expressed while the other is silenced through imprinting. For the genes affected in PWS, it is the maternal copy that is usually imprinted (and thus is silenced), while the mutated paternal copy is not functional. This means that while most people have one working and one silenced set of these genes, people with PWS have a non-working set and a silenced set. If the maternally derived genetic material from the same region is affected instead, the sister Angelman Syndrome is the result.With the recent benefits of early diagnosis and ongoing interventions, the obesity rate among children with Prader–Willi Syndrome has decreased to be similar to the typical population. With behavioural therapy and other treatments, the effects of the syndrome can be reduced.".
- Q594013 icd10 "Q87.1".
- Q594013 icd9 "759.81".
- Q594013 meshId "D011218".
- Q594013 omim "176270".
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- Q594013 icd "759.81".
- Q594013 icd "Q87.1".
- Q594013 meshid "D011218".
- Q594013 name "Prader-Willi Syndrome".
- Q594013 omim "176270".
- Q594013 type Disease.
- Q594013 type Thing.
- Q594013 type Q12136.
- Q594013 comment "Prader–Willi syndrome (/ˈprɑːdər ˈvɪli/; abbreviated PWS) is a rare genetic disorder in which seven genes (or some subset thereof) on chromosome 15 (q 11–13) are deleted or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. It was first described in 1956 by Andrea Prader (1919–2001), Heinrich Willi (1900–1971), Alexis Labhart (1916–1994), Andrew Ziegler, and Guido Fanconi of Switzerland.".
- Q594013 label "Prader–Willi syndrome".
- Q594013 name "Prader-Willi Syndrome".