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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > Prader-Willi Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > Prader-Willi Syndrome
... > Nutritional and Metabolic Diseases > Nutrition Disorders > Overnutrition > Overweight > Obesity > Prader-Willi Syndrome
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Body Weight > Overweight > Obesity > Prader-Willi Syndrome
... > Diagnosis > Diagnostic Techniques and Procedures > Physical Examination > Anthropometry > Body Weights and Measures > Body Size > Body Weight > Overweight > Obesity > Prader-Willi Syndrome
... > Investigative Techniques > Epidemiologic Methods > Statistics as Topic > Biometry > Anthropometry > Body Weights and Measures > Body Size > Body Weight > Overweight > Obesity > Prader-Willi Syndrome
... > Health Occupations > Medicine > Public Health > Epidemiologic Methods > Statistics as Topic > Biometry > Anthropometry > Body Weights and Measures > Body Size > Body Weight > Overweight > Obesity > Prader-Willi Syndrome
... > Population Characteristics > Health > Public Health > Epidemiologic Methods > Statistics as Topic > Biometry > Anthropometry > Body Weights and Measures > Body Size > Body Weight > Overweight > Obesity > Prader-Willi Syndrome
... > Environment and Public Health > Public Health > Epidemiologic Methods > Statistics as Topic > Biometry > Anthropometry > Body Weights and Measures > Body Size > Body Weight > Overweight > Obesity > Prader-Willi Syndrome
... > Health Care Quality, Access, and Evaluation > Quality of Health Care > Health Care Evaluation Mechanisms > Statistics as Topic > Biometry > Anthropometry > Body Weights and Measures > Body Size > Body Weight > Overweight > Obesity > Prader-Willi Syndrome
... > Health Occupations > Health Services Administration > Quality of Health Care > Health Care Evaluation Mechanisms > Statistics as Topic > Biometry > Anthropometry > Body Weights and Measures > Body Size > Body Weight > Overweight > Obesity > Prader-Willi Syndrome
... > Natural Science Disciplines > Mathematics > Statistics as Topic > Biometry > Anthropometry > Body Weights and Measures > Body Size > Body Weight > Overweight > Obesity > Prader-Willi Syndrome
... > Health Occupations > Medicine > Public Health > Epidemiologic Measurements > Biometry > Anthropometry > Body Weights and Measures > Body Size > Body Weight > Overweight > Obesity > Prader-Willi Syndrome
... > Population Characteristics > Health > Public Health > Epidemiologic Measurements > Biometry > Anthropometry > Body Weights and Measures > Body Size > Body Weight > Overweight > Obesity > Prader-Willi Syndrome
... > Environment and Public Health > Public Health > Epidemiologic Measurements > Biometry > Anthropometry > Body Weights and Measures > Body Size > Body Weight > Overweight > Obesity > Prader-Willi Syndrome
... > Diagnosis > Diagnostic Techniques and Procedures > Physical Examination > Body Constitution > Body Weights and Measures > Body Size > Body Weight > Overweight > Obesity > Prader-Willi Syndrome
... > Physiological Phenomena > Body Constitution > Body Weights and Measures > Body Size > Body Weight > Overweight > Obesity > Prader-Willi Syndrome
... > Physiological Phenomena > Growth and Development > Growth > Body Size > Body Weight > Overweight > Obesity > Prader-Willi Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Prader-Willi Syndrome
Nervous System Diseases > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Prader-Willi Syndrome
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Prader-Willi Syndrome
Behavior and Behavior Mechanisms > Neurobehavioral Manifestations > Intellectual Disability > Prader-Willi Syndrome
Mental Disorders > Neurodevelopmental Disorders > Intellectual Disability > Prader-Willi Syndrome

Terme préférentiel

Prader-Willi Syndrome  

Type

  • mesh:Descriptor

Définition

  • 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) An association of DIABETES MELLITUS with Prader-Willi Syndrome.

Concept générique

Synonyme(s)

  • Labhart-Willi-Prader-Fanconi Syndrome
  • Labhart-Willi Syndrome
  • Prader Labhart Willi Syndrome
  • Prader-Labhart-Willi Syndrome
  • Willi-Prader Syndrome

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-K6WT37LH-3

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RDF/XML TURTLE JSON-LD Date de création 13/04/1976, dernière modification le 07/07/2021