Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

PRADER-WILLI SYNDROME
Synonyms

PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6
ID

http://purl.bioontology.org/ontology/OMIM/176270
altLabel

PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6

PRADER-WILLI SYNDROME CHROMOSOME REGION

PWS

PRADER-LABHART-WILLI SYNDROME

PWCR
cui

C1867858

C1867859

C0032897
Gene Locus

15q11-q13
Gene Symbol

PWS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU007306

http://purl.bioontology.org/ontology/OMIM/MTHU036519

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU010146

http://purl.bioontology.org/ontology/OMIM/MTHU003335

http://purl.bioontology.org/ontology/OMIM/MTHU063350

http://purl.bioontology.org/ontology/OMIM/MTHU000372

http://purl.bioontology.org/ontology/OMIM/MTHU015994

http://purl.bioontology.org/ontology/OMIM/MTHU015995

http://purl.bioontology.org/ontology/OMIM/MTHU036505

http://purl.bioontology.org/ontology/OMIM/MTHU015988

http://purl.bioontology.org/ontology/OMIM/MTHU009549

http://purl.bioontology.org/ontology/OMIM/MTHU000583

http://purl.bioontology.org/ontology/OMIM/MTHU016005

http://purl.bioontology.org/ontology/OMIM/MTHU009588

http://purl.bioontology.org/ontology/OMIM/MTHU020150

http://purl.bioontology.org/ontology/OMIM/MTHU000031

http://purl.bioontology.org/ontology/OMIM/MTHU016004

http://purl.bioontology.org/ontology/OMIM/MTHU015990

http://purl.bioontology.org/ontology/OMIM/MTHU015978

http://purl.bioontology.org/ontology/OMIM/MTHU015977

http://purl.bioontology.org/ontology/OMIM/MTHU015999

http://purl.bioontology.org/ontology/OMIM/MTHU000560

http://purl.bioontology.org/ontology/OMIM/MTHU000244

http://purl.bioontology.org/ontology/OMIM/MTHU019119

http://purl.bioontology.org/ontology/OMIM/MTHU000048

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU036337

http://purl.bioontology.org/ontology/OMIM/MTHU015991

http://purl.bioontology.org/ontology/OMIM/MTHU015981

http://purl.bioontology.org/ontology/OMIM/MTHU016007

http://purl.bioontology.org/ontology/OMIM/MTHU016001

http://purl.bioontology.org/ontology/OMIM/MTHU016002

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU009012

http://purl.bioontology.org/ontology/OMIM/MTHU001928

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU015993

http://purl.bioontology.org/ontology/OMIM/MTHU015985

http://purl.bioontology.org/ontology/OMIM/MTHU063349

http://purl.bioontology.org/ontology/OMIM/MTHU004754

http://purl.bioontology.org/ontology/OMIM/MTHU007202

http://purl.bioontology.org/ontology/OMIM/MTHU015997

http://purl.bioontology.org/ontology/OMIM/MTHU041452

http://purl.bioontology.org/ontology/OMIM/MTHU015996

http://purl.bioontology.org/ontology/OMIM/MTHU007690

http://purl.bioontology.org/ontology/OMIM/MTHU015989

http://purl.bioontology.org/ontology/OMIM/MTHU002380

http://purl.bioontology.org/ontology/OMIM/MTHU016000

http://purl.bioontology.org/ontology/OMIM/MTHU015982

http://purl.bioontology.org/ontology/OMIM/MTHU063352

http://purl.bioontology.org/ontology/OMIM/MTHU015983

http://purl.bioontology.org/ontology/OMIM/MTHU015976

http://purl.bioontology.org/ontology/OMIM/MTHU004112

http://purl.bioontology.org/ontology/OMIM/MTHU012513

http://purl.bioontology.org/ontology/OMIM/MTHU015987

http://purl.bioontology.org/ontology/OMIM/MTHU016006

http://purl.bioontology.org/ontology/OMIM/MTHU016012

http://purl.bioontology.org/ontology/OMIM/MTHU015979

http://purl.bioontology.org/ontology/OMIM/MTHU015285

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU004843

http://purl.bioontology.org/ontology/OMIM/MTHU015986

http://purl.bioontology.org/ontology/OMIM/MTHU000264

http://purl.bioontology.org/ontology/OMIM/MTHU037057

http://purl.bioontology.org/ontology/OMIM/MTHU015980

http://purl.bioontology.org/ontology/OMIM/MTHU004822

http://purl.bioontology.org/ontology/OMIM/MTHU016003

http://purl.bioontology.org/ontology/OMIM/MTHU015992

http://purl.bioontology.org/ontology/OMIM/MTHU004823

http://purl.bioontology.org/ontology/OMIM/MTHU016010

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU015998
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

176270
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

PRADER-WILLI SYNDROME
Scope Statement

Rare cases secondary to chromosome translocation [MISCELLANEOUS]

Unusual skill with jigsaw puzzle [MISCELLANEOUS]

Most cases due to interstitial deletions, the remainder of cases are secondary to maternal disomy [MISCELLANEOUS]

Imprinted disorder [MISCELLANEOUS]

Contiguous gene syndrome caused by deletion of the paternal allele of the imprinted region at 15q11.2 [MOLECULAR BASIS]
tui

T047

T033
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C566764 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10036476 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/89392001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D4-00615 SNMI CUI
http://purl.bioontology.org/ontology/CSP/1849-7731 CRISP CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0032897 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/RCD/PKy93 RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/89392001 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002472 NDFRT CUI
http://purl.bioontology.org/ontology/MSHFRE/D011218 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D011218 MESH CUI
http://purl.bioontology.org/ontology/ICD9CM/759.81 ICD9CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10036476 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.11 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10036476 MEDDRA CUI
http://purl.obolibrary.org/obo/MONDO_0008300 EFO LOOM
http://purl.obolibrary.org/obo/DOID_11983 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0008300 MONDO LOOM
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://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 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 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