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Prader-Willi syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0008300

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. [ Orphanet:739 ]

Synonyms: Willi-Prader syndrome Prader-Willi syndrome Prader Willi syndrome Prader-Willi-Labhart syndrome Prader-Labhart-Willi syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • NORD:1602 (MONDO:NORD)
  • DOID:11983 (MONDO:equivalentTo)
  • MedDRA:10036476 (Orphanet:739/e)
  • GARD:5575 (Orphanet:739)
  • Orphanet:739 (OMIM:176270)
  • OMIM:176270 (Orphanet:739/e)
  • UMLS:C0032897 (Orphanet:739/e)
  • NCIT:C75463 (MONDO:equivalentTo)
  • MESH:D011218 (Orphanet:739/e)
  • ICD9:759.81 (MONDO:i2s)
  • SCTID:89392001 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare

closeMatch

http://identifiers.org/meddra/10036476

exactMatch

http://purl.obolibrary.org/obo/NCIT_C75463

http://identifiers.org/snomedct/89392001

http://linkedlifedata.com/resource/umls/id/C0032897

http://www.orpha.net/ORDO/Orphanet_739

https://omim.org/entry/176270

http://purl.obolibrary.org/obo/DOID_11983

http://identifiers.org/mesh/D011218

has related synonym

obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet

Prader-Willi-like syndrome associated with chromosome 6

obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet

Prader-Willi syndrome chromosome region

PWS

id

MONDO:0008300

seeAlso

https://rarediseases.info.nih.gov/diseases/5575/prader-willi-syndrome