Related MeSH Hierarchy (5)
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Nutrition Disorders » Overnutrition » Overweight » Obesity » Prader-Willi Syndrome
Diseases [C] » Nervous System Diseases [C10] » Neurologic Manifestations » Neurobehavioral Manifestations » Intellectual Disability » Prader-Willi Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Abnormalities, Multiple » Prader-Willi Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Chromosome Disorders » Prader-Willi Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Chromosome Disorders » Prader-Willi Syndrome
Description
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) MeSH
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Approved Indicated Drugs (1)
Phase 4 Indicated Drugs (3)
Phase 3 Indicated Drugs (9)
Phase 2 Indicated Drugs (6)
Other Experimental Indicated Drugs (3)
Organization Involved with Phase 4 Indications (8)
Organization Involved with Phase 3 Indications (23)
Organization Involved with Phase 2 Indications (11)
Organization Involved with Other Experimental Indications (8)
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UMLS Data
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