Preferred Name

PRADER-WILLI SYNDROME

Synonyms

PRADER-LABHART-WILLI SYNDROME

ID

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

altLabel

PRADER-LABHART-WILLI SYNDROME

PWS

PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6

PWCR

PRADER-WILLI SYNDROME CHROMOSOME REGION

cui

C0032897

C1867858

C1867859

Gene Locus

15q11-q13

Gene Symbol

PWS

Has manifestation

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

176270

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

PRADER-WILLI SYNDROME

Scope Statement

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

Unusual skill with jigsaw puzzle [MISCELLANEOUS]

Imprinted disorder [MISCELLANEOUS]

Rare cases secondary to chromosome translocation [MISCELLANEOUS]

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

tui

T033

T047

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Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75463 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/MONDO_0008300 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0008300 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/DOID_11983 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_11983 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C566764 Medical Subject Headings / 医学主题词表 CUI
http://www.orpha.net/ORDO/Orphanet_739 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.11 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.11 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0032897 MedlinePlus Health Topics / MedlinePlus网站健康主题 CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0032897 MedlinePlus Health Topics / MedlinePlus网站健康主题 LOOM
http://purl.bioontology.org/ontology/MESH/D011218 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D011218 Medical Subject Headings / 医学主题词表 LOOM