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MeSH 搜索器

Prader-Willi Syndrome

An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
推出的年份: 1977
副标题
树号: C10.597.606.360.690, C16.131.077.730, C16.131.260.700, C16.320.180.700, C18.654.726.750.500.740
MeSH 单一 ID: D011218
进入的组:
  • Prader Willi Syndrome
  • Syndrome, Prader-Willi
  • Prader-Labhart-Willi Syndrome
  • Syndrome, Prader-Labhart-Willi
  • Willi-Prader Syndrome
  • Syndrome, Willi-Prader
  • Willi Prader Syndrome
  • Prader Labhart Willi Syndrome
  • Labhart-Willi Syndrome
  • Labhart Willi Syndrome
  • Syndrome, Labhart-Willi
  • Labhart-Willi-Prader-Fanconi Syndrome
  • Labhart Willi Prader Fanconi Syndrome
  • Syndrome, Labhart-Willi-Prader-Fanconi
  • Royer Syndrome
  • Syndrome, Royer
  • Royer's Syndrome
  • Royers Syndrome
  • Syndrome, Royer's
早前的内容:
  • Abnormalities, Multiple (1968-1976)
  • Carbohydrate Metabolism, Inborn Errors (1969-1976)
  • Hypogonadism (1966-1976)
  • Mental Retardation (1966-1976)
  • Obesity (1966-1976)

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