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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008300 |
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| closeMatch | ||
| database_cross_reference |
GARD:5575 UMLS:C0032897 ICD9:759.81 Orphanet:739 SCTID:89392001 MESH:D011218 DOID:11983 MedDRA:10036476 icd11.foundation:393773440 NCIT:C75463 NORD:1602 OMIM:176270 |
|
| 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. |
|
| exactMatch |
http://identifiers.org/snomedct/89392001 http://linkedlifedata.com/resource/umls/id/C0032897 http://identifiers.org/mesh/D011218 http://purl.obolibrary.org/obo/Orphanet_739 |
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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 |
|
| id |
MONDO:0008300 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
Prader-Willi syndrome |
|
| notation |
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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| treeView |
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_0002320 |
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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_0002320 |