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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000002472
http://purl.bioontology.org/ontology/NDFRT/N0000002472
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|---|---|
| Preferred Name | Prader-Willi Syndrome [Disease/Finding] |
| Synonyms |
Prader-Labhart-Willi Syndrome
Labhart-Willi-Prader-Fanconi Syndrome
Labhart-Willi Syndrome
Prader-Willi Syndrome
Willi-Prader Syndrome
Prader Labhart Willi Syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Prader-Labhart-Willi Syndrome
Labhart-Willi-Prader-Fanconi Syndrome
Labhart-Willi Syndrome
Prader-Willi Syndrome
Willi-Prader Syndrome
Prader Labhart Willi Syndrome
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| prefLabel | Prader-Willi Syndrome [Disease/Finding]
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| notation | N0000002472
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| May be treated by |
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| MESH DEFINITION | 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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| MESH UI | M0017431
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| subClassOf | |
| Semantic type UMLS property | |
| MeSH name | Prader-Willi Syndrome
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| NDFRT kind | DISEASE_KIND
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| type | |
| SNOMED CID | 89392001
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| tui | T047
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| NUI | N0000002472
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| cui | C0032897
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| MESH DUI | D011218
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| Delete | Subject | Author | Type | Created |
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| No notes to display |