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Autism Spectrum Disorder Phenotype Ontology
Last uploaded:
January 21, 2014
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| Id | http://cbmi.med.harvard.edu/asdphenotype#Class_500
http://cbmi.med.harvard.edu/asdphenotype#Class_500
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| Preferred Name | Prader-Willi Syndrome |
| Definitions |
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 which are imprinted and hence silenced. Clinical manifestations include mental retardation, muscular hypotonia, hyperphagia, obesity, short stature hypogonadism, strabismus, and hypersomnolence.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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 which are imprinted and hence silenced. Clinical manifestations include mental retardation, muscular hypotonia, hyperphagia, obesity, short stature hypogonadism, strabismus, and hypersomnolence. |
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| label |
Prader-Willi Syndrome
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| prefLabel |
Prader-Willi Syndrome
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| prefixIRI |
asd:Class_500
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| seeAlso | |
| subClassOf | |
| type |
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