Mondo Disease Ontology

Last uploaded: March 4, 2024
Preferred Name

Prader-Willi syndrome

Synonyms

Prader-Willi syndrome

Prader-Labhart-Willi syndrome

Prader Willi syndrome

Prader-Willi-Labhart syndrome

Willi-Prader syndrome

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

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

closeMatch

http://identifiers.org/meddra/10036476

database_cross_reference

GARD:5575

UMLS:C0032897

ICD9:759.81

Orphanet:739

SCTID:89392001

MESH:D011218

DOID:11983

MedDRA:10036476

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

https://omim.org/entry/176270

http://purl.obolibrary.org/obo/Orphanet_739

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

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

has_exact_synonym

Prader-Willi syndrome

Prader-Labhart-Willi syndrome

Prader Willi syndrome

Prader-Willi-Labhart syndrome

Willi-Prader syndrome

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

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

http://purl.obolibrary.org/obo/mondo#gard_rare

label

Prader-Willi syndrome

notation

MONDO:0008300

prefLabel

Prader-Willi syndrome

seeAlso

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

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

http://purl.obolibrary.org/obo/MONDO_0002254

http://purl.obolibrary.org/obo/MONDO_0015160

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

http://purl.obolibrary.org/obo/MONDO_0002254

http://purl.obolibrary.org/obo/MONDO_0015160

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0008300 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008300 DOVES SAME_URI
http://purl.obolibrary.org/obo/MESH_D011218 BERO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/89392001 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.700 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00615 SNMI LOOM
http://purl.bioontology.org/ontology/OMIM/176270 OMIM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#10026 OCHV LOOM
http://www.limics.org/hrdo/rdfns#pat_id_139 HRDO LOOM
http://purl.jp/bio/4/id/200906011442457180 IOBC LOOM
http://localhost/plosthes.2017-1#7162 PLOSTHES LOOM
http://purl.bioontology.org/ontology/CSP/1849-7731 CRISP LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.730 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.700 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0012182 OMIT LOOM
http://www.projecthalo.com/aura#Prader-Willi-Syndrome AURA LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0032897 OCHV LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_11983 NATPRO LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0032897 MEDLINEPLUS LOOM
http://www.phoc.org.cn/pmo/class/PMO_00040030 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/RCD/PKy93 RCD LOOM
http://purl.obolibrary.org/obo/MONDO_0008300 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008300 DOVES LOOM
http://purl.obolibrary.org/obo/Prader-Willi_Syndrome NND_ND LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Prader_Willi_Syndrome CSEO LOOM
http://cbmi.med.harvard.edu/asdphenotype#Class_500 ASDPTO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D011218 RH-MESH LOOM
http://www.gamuts.net/entity#Prader_Willi_syndrome GAMUTS LOOM
http://www.orpha.net/ORDO/Orphanet_739 ORDO LOOM
http://purl.bioontology.org/ontology/MESH/D011218 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.654.726.500.740 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.606.643.690 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD9CM/759.81 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/759.81 NLMVS LOOM
http://purl.obolibrary.org/obo/NCIT_C75463 BERO LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Prader_Willi_Syndrome APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Prader_Willi_Syndrome APAONTO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75463 NCIT LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.11 ICD10CM LOOM
http://purl.obolibrary.org/obo/OGMD_0000072 OGMD LOOM
http://purl.obolibrary.org/obo/DOID_11983 CLO LOOM
http://purl.obolibrary.org/obo/DOID_11983 DTO LOOM
http://purl.obolibrary.org/obo/DOID_11983 DOID LOOM
http://purl.obolibrary.org/obo/DOID_11983 BAO LOOM
http://purl.obolibrary.org/obo/DOID_11983 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_11983 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_11983 FNS-H LOOM
http://purl.bioontology.org/ontology/MEDDRA/10036476 MEDDRA LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15350 DERMLEX LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Prader-Willi_Syndrome PEDTERM LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy9300 RCTV2 LOOM