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-Labhart syndrome Prader-Labhart-Willi syndrome Prader-Willi syndrome Willi-Prader syndrome Prader Willi 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 |
ICD9:759.81 MedDRA:10036476 Orphanet:739 SCTID:89392001 OMIM:176270 NCIT:C75463 MESH:D011218 NANDO:2200411 icd11.foundation:393773440 NANDO:1200678 MEDGEN:46057 UMLS:C0032897 DOID:11983 GARD:5575 NORD:1602 |
|
| 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://purl.obolibrary.org/obo/mondo/sources/icd11foundation/393773440 http://linkedlifedata.com/resource/umls/id/C0032897 http://identifiers.org/mesh/D011218 http://purl.obolibrary.org/obo/Orphanet_739 http://purl.obolibrary.org/obo/NCIT_C75463 |
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| has_exact_synonym |
Prader-Willi-Labhart syndrome Prader-Labhart-Willi syndrome Prader-Willi syndrome Willi-Prader syndrome Prader Willi 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/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Prader-Willi syndrome |
|
| notation |
MONDO:0008300 |
|
| preferred label |
Prader-Willi syndrome |
|
| prefLabel |
Prader-Willi syndrome |
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| see also |
https://rarediseases.info.nih.gov/diseases/5575/prader-willi-syndrome |
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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 |