loading...| Preferred Name | Prader-Willi syndrome | |
| Synonyms |
Prader-Willi syndrome chromosome region obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet Prader-Willi-like syndrome associated with chromosome 6 PWS Prader-Willi syndrome Prader-Labhart-Willi syndrome Prader Willi syndrome Prader-Willi-Labhart syndrome Willi-Prader syndrome |
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| Definitions |
Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0008300 |
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| altLabel |
Prader-Willi syndrome chromosome region obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet Prader-Willi-like syndrome associated with chromosome 6 PWS Prader-Willi syndrome Prader-Labhart-Willi syndrome Prader Willi syndrome Prader-Willi-Labhart syndrome Willi-Prader syndrome |
|
| definition |
Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems. |
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| has_exact_synonym |
Prader-Willi syndrome Prader-Labhart-Willi syndrome Prader Willi syndrome Prader-Willi-Labhart syndrome Willi-Prader syndrome |
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| has_related_synonym |
Prader-Willi syndrome chromosome region obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet Prader-Willi-like syndrome associated with chromosome 6 PWS |
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| label |
Prader-Willi syndrome |
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| prefixIRI |
MONDO:0008300 |
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| prefLabel |
Prader-Willi syndrome |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/5575/prader-willi-syndrome |
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| textual definition |
Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019040 http://purl.obolibrary.org/obo/MONDO_0100038 http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0015770 http://purl.obolibrary.org/obo/MONDO_0016565 |