| Descriptor English: | Prader-Willi Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Prader-Willi
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| Descriptor Portuguese: | Síndrome de Prader-Willi | ||||||
| Descriptor French: | Syndrome de Prader-Willi | ||||||
| Entry term(s): |
Labhart Willi Prader Fanconi Syndrome Labhart Willi Syndrome Labhart-Willi Syndrome Labhart-Willi-Prader-Fanconi Syndrome Prader Labhart Willi Syndrome Prader Willi Syndrome Prader-Labhart-Willi Syndrome Royer Syndrome Royer's Syndrome Royers Syndrome Syndrome, Labhart-Willi Syndrome, Labhart-Willi-Prader-Fanconi Syndrome, Prader-Labhart-Willi Syndrome, Prader-Willi Syndrome, Royer Syndrome, Royer's Syndrome, Willi-Prader Willi Prader Syndrome Willi-Prader Syndrome |
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| Tree number(s): |
C10.597.606.360.690 C16.131.077.730 C16.131.260.700 C16.320.180.700 C16.320.447.500 C18.654.726.750.500.740 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D011218 | ||||||
| Scope note: | 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) |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Abnormalities, Multiple (1968-1976) Carbohydrate Metabolism, Inborn Errors (1969-1976) Hypogonadism (1966-1976) Mental Retardation (1966-1976) Obesity (1966-1976) |
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| Public MeSH Note: | 1977 |
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| History Note: | 1977 |
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| Related: |
Intellectual Disability
MeSH | ||||||
| DeCS ID: | 11655 | ||||||
| Unique ID: | D011218 | ||||||
| NLM Classification: | QS 675 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1977/01/01 | ||||||
| Date of Entry: | 1976/04/13 | ||||||
| Revision Date: | 2018/07/01 |
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Prader-Willi Syndrome
- Preferred
Royer Syndrome
- Related but not broader or narrower
| Concept UI |
M0017431 |
| Scope note | 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) |
| Preferred term | Prader-Willi Syndrome |
| Entry term(s) |
Labhart Willi Prader Fanconi Syndrome Labhart Willi Syndrome Labhart-Willi Syndrome Labhart-Willi-Prader-Fanconi Syndrome Prader Labhart Willi Syndrome Prader Willi Syndrome Prader-Labhart-Willi Syndrome Syndrome, Labhart-Willi Syndrome, Labhart-Willi-Prader-Fanconi Syndrome, Prader-Labhart-Willi Syndrome, Prader-Willi Syndrome, Willi-Prader Willi Prader Syndrome Willi-Prader Syndrome |
| Concept UI |
M0335754 |
| Scope note | An association of DIABETES MELLITUS with Prader-Willi Syndrome. |
| Preferred term | Royer Syndrome |
| Entry term(s) |
Royer's Syndrome Royers Syndrome Syndrome, Royer Syndrome, Royer's |
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