Medical Subject Headings

Last uploaded: August 27, 2019
Preferred Name

Prader-Willi Syndrome

Synonyms

Prader Willi Syndrome

Definitions

An association of DIABETES MELLITUS with Prader-Willi Syndrome.

ID

http://purl.bioontology.org/ontology/MESH/D011218

altLabel

Prader Willi Syndrome

Willi Prader Syndrome

Labhart-Willi Syndrome

Syndrome, Prader-Labhart-Willi

Labhart Willi Syndrome

Royers Syndrome

Royer Syndrome

Syndrome, Labhart-Willi

Syndrome, Royer's

Labhart Willi Prader Fanconi Syndrome

Labhart-Willi-Prader-Fanconi Syndrome

Syndrome, Willi-Prader

Prader Labhart Willi Syndrome

Syndrome, Royer

Syndrome, Prader-Willi

Prader-Labhart-Willi Syndrome

Syndrome, Labhart-Willi-Prader-Fanconi

Royer's Syndrome

Willi-Prader Syndrome

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

cui

C0032897

C0265222

DC

1

definition

An association of DIABETES MELLITUS with Prader-Willi Syndrome.

An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)

DX

19770101

FX

D008607

HN

1977

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469

Inverse of RO

http://purl.bioontology.org/ontology/MESH/D008607

Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D001816

http://purl.bioontology.org/ontology/MESH/D056128

http://purl.bioontology.org/ontology/MESH/D056889

http://purl.bioontology.org/ontology/MESH/D056732

http://purl.bioontology.org/ontology/MESH/D009767

http://purl.bioontology.org/ontology/MESH/D000073839

http://purl.bioontology.org/ontology/MESH/D018980

http://purl.bioontology.org/ontology/MESH/D016878

http://purl.bioontology.org/ontology/MESH/D009958

http://purl.bioontology.org/ontology/MESH/D058165

http://purl.bioontology.org/ontology/MESH/D056733

http://purl.bioontology.org/ontology/MESH/D058497

http://purl.bioontology.org/ontology/MESH/D059446

http://purl.bioontology.org/ontology/MESH/D044542

http://purl.bioontology.org/ontology/MESH/D010845

http://purl.bioontology.org/ontology/MESH/D000072661

http://purl.bioontology.org/ontology/MESH/D004476

http://purl.bioontology.org/ontology/MESH/D056846

http://purl.bioontology.org/ontology/MESH/D004314

http://purl.bioontology.org/ontology/MESH/D058495

http://purl.bioontology.org/ontology/MESH/D019082

http://purl.bioontology.org/ontology/MESH/D016738

http://purl.bioontology.org/ontology/MESH/D017204

http://purl.bioontology.org/ontology/MESH/D009261

http://purl.bioontology.org/ontology/MESH/D016715

http://purl.bioontology.org/ontology/MESH/D038901

http://purl.bioontology.org/ontology/MESH/D063766

http://purl.bioontology.org/ontology/MESH/D009800

http://purl.bioontology.org/ontology/MESH/D054868

http://purl.bioontology.org/ontology/MESH/D019280

http://purl.bioontology.org/ontology/MESH/D056685

http://purl.bioontology.org/ontology/MESH/D007849

http://purl.bioontology.org/ontology/MESH/D012779

http://purl.bioontology.org/ontology/MESH/D056770

http://purl.bioontology.org/ontology/MESH/D056731

http://purl.bioontology.org/ontology/MESH/D054975

http://purl.bioontology.org/ontology/MESH/D020331

http://purl.bioontology.org/ontology/MESH/D000067329

http://purl.bioontology.org/ontology/MESH/D056730

http://purl.bioontology.org/ontology/MESH/D058747

http://purl.bioontology.org/ontology/MESH/D015211

http://purl.bioontology.org/ontology/MESH/D058502

http://purl.bioontology.org/ontology/MESH/D058496

http://purl.bioontology.org/ontology/MESH/D007690

http://purl.bioontology.org/ontology/MESH/D003057

http://purl.bioontology.org/ontology/MESH/D056830

http://purl.bioontology.org/ontology/MESH/D000073842

http://purl.bioontology.org/ontology/MESH/D001506

http://purl.bioontology.org/ontology/MESH/D001478

http://purl.bioontology.org/ontology/MESH/D005736

http://purl.bioontology.org/ontology/MESH/D017624

http://purl.bioontology.org/ontology/MESH/D016142

http://purl.bioontology.org/ontology/MESH/D007184

http://purl.bioontology.org/ontology/MESH/D025064

http://purl.bioontology.org/ontology/MESH/D014849

http://purl.bioontology.org/ontology/MESH/D054062

http://purl.bioontology.org/ontology/MESH/D003635

http://purl.bioontology.org/ontology/MESH/D054463

http://purl.bioontology.org/ontology/MESH/D055947

http://purl.bioontology.org/ontology/MESH/D054877

http://purl.bioontology.org/ontology/MESH/D011535

http://purl.bioontology.org/ontology/MESH/D056734

http://purl.bioontology.org/ontology/MESH/D054000

http://purl.bioontology.org/ontology/MESH/D012410

http://purl.bioontology.org/ontology/MESH/D003410

http://purl.bioontology.org/ontology/MESH/D012415

http://purl.bioontology.org/ontology/MESH/D008382

Machine permutation

1977

Mapped from

http://purl.bioontology.org/ontology/MESH/C566764

http://purl.bioontology.org/ontology/MESH/C538276

MDA

19760413

MMR

20180701

MN

C10.597.606.360.690

C16.320.180.700

C16.131.260.700

C16.131.077.730

C18.654.726.500.740

notation

D011218

prefLabel

Prader-Willi Syndrome

TERMUI

T369646

T752514

T752513

T369645

T811831

T369647

T033046

T369648

TH

NLM (1977)

NLM (2000)

NLM (2010)

ORD (2010)

OMIM (2013)

GHR (2014)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D009765

http://purl.bioontology.org/ontology/MESH/D008607

http://purl.bioontology.org/ontology/MESH/D025063

http://purl.bioontology.org/ontology/MESH/D000015

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75463 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75463 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.654.726.500.740 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.730 RH-MESH LOOM
http://purl.bioontology.org/ontology/NDFRT/N0000002472 NDFRT CUI
http://purl.bioontology.org/ontology/SNMI/D4-00615 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/D4-00615 SNMI LOOM
http://purl.bioontology.org/ontology/CSP/1849-7731 CRISP CUI
http://purl.bioontology.org/ontology/CSP/1849-7731 CRISP LOOM
http://cbmi.med.harvard.edu/asdphenotype#Class_500 ASDPTO LOOM
http://localhost/plosthes.2017-1#7162 PLOSTHES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.700 RH-MESH LOOM
http://purl.bioontology.org/ontology/MDRFRE/10036476 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.1 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD9CM/759.81 ICD9CM CUI
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/MONDO_0008300 MONDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/89392001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/89392001 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00614 SNMI CUI
http://purl.obolibrary.org/obo/DOID_11983 DTO LOOM
http://purl.obolibrary.org/obo/DOID_11983 CLO LOOM
http://purl.obolibrary.org/obo/DOID_11983 BAO 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 NIFSTD LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Prader-Willi_Syndrome PEDTERM LOOM
http://purl.bioontology.org/ontology/MEDDRA/10036476 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10036476 MEDDRA LOOM
http://purl.jp/bio/4/id/200906011442457180 IOBC LOOM
http://purl.obolibrary.org/obo/OGMD_0000072 OGMD LOOM
http://purl.bioontology.org/ontology/SCTSPA/89392001 SCTSPA CUI
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Prader_Willi_Syndrome APAONTO LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Prader_Willi_Syndrome APADISORDERS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Prader_Willi_Syndrome CSEO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#10026 OCHV LOOM
http://www.orpha.net/ORDO/Orphanet_739 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_739 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_739 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_739 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.606.643.690 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/176270 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/176270 OMIM LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15350 DERMLEX LOOM
http://www.limics.org/hrdo/rdfns#pat_id_139 HRDO LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0032897 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0032897 MEDLINEPLUS LOOM
http://www.gamuts.net/entity#Prader_Willi_syndrome GAMUTS LOOM
http://purl.bioontology.org/ontology/MSHFRE/D011218 MSHFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D011218 MSHFRE CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D011218 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy9300 RCTV2 LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0032897 OCHV LOOM
http://purl.bioontology.org/ontology/RCD/PKy93 RCD CUI
http://purl.bioontology.org/ontology/RCD/PKy93 RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.700 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_11983 NATPRO LOOM
http://www.projecthalo.com/aura#Prader-Willi-Syndrome AURA LOOM