- 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)
- Terms
-
Prader-Willi Syndrome
Preferred Term
Term UI
T033046
Date01/01/1999
LexicalTag
EPO
ThesaurusID
-
Labhart-Willi Syndrome
Term UI
T369645
Date11/03/1999
LexicalTag
EPO
ThesaurusID
NLM (2000)
-
Labhart-Willi-Prader-Fanconi Syndrome
Term UI
T369646
Date11/03/1999
LexicalTag
EPO
ThesaurusID
NLM (2000)
-
Willi-Prader Syndrome
Term UI
T752513
Date06/09/2009
LexicalTag
EPO
ThesaurusID
-
Prader Labhart Willi Syndrome
Term UI
T752514
Date06/09/2009
LexicalTag
EPO
ThesaurusID
-
Prader-Labhart-Willi Syndrome
Term UI
T811831
Date11/15/2011
LexicalTag
EPO
ThesaurusID