Cell Culture Ontology

Last uploaded: July 23, 2014
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Id http://purl.obolibrary.org/obo/MONDO_0008300
http://purl.obolibrary.org/obo/MONDO_0008300
Preferred Name

Prader-Willi syndrome
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.
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
Type http://www.w3.org/2002/07/owl#Class

All Properties

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.
preferred label
Prader-Willi syndrome
label
Prader-Willi syndrome
prefLabel
Prader-Willi syndrome
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
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notation
MONDO:0008300
in_subset
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
skos_exactMatch
see also
subClassOf
skos_closeMatch
type
has_exact_synonym
Prader-Willi-Labhart syndrome
Prader-Labhart-Willi syndrome
Prader-Willi syndrome
Willi-Prader syndrome
Prader Willi syndrome
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