Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Prader-Willi syndrome
go back to main search page
Accession:DOID:11983 term browser browse the term
Definition:A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity. (DO)
Synonyms:exact_synonym: Labhart Willi Prader Fanconi syndrome;   Labhart Willi Syndrome;   PWS;   Prader Labhart Willi Syndrome;   Royer syndrome;   Royer's Syndrome;   Royers Syndrome
 narrow_synonym: PRADER-WILLI SYNDROME CHROMOSOME REGION;   PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6;   PWCR
 primary_id: MESH:D011218
 alt_id: OMIM:176270
 xref: GARD:5575;   ICD10CM:Q87.11;   ICD9CM:759.81;   NCI:C75463;   ORDO:739
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
Prader-Willi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP10A ATPase phospholipid transporting 10A (putative) ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr26:56,230,006...56,416,398
Ensembl chr26:56,230,723...56,417,052 		JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr26:55,147,512...55,227,801
Ensembl chr26:55,147,511...55,227,297 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr26:55,319,667...55,543,116
Ensembl chr26:55,471,907...55,538,855 		JBrowse link
G GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr26:54,570,497...55,126,712 JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO RGD PMID:15057669 RGD:12905043 NCBI chr22:46,326,458...46,332,906
Ensembl chr22:46,325,913...46,330,962 		JBrowse link
G HCRT hypocretin neuropeptide precursor ISO protein:decreased expression:cerebrospinal fluid RGD PMID:15613151 RGD:1600935 NCBI chr16:64,083,199...64,085,393
Ensembl chr16:64,084,070...64,085,292 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28631899 NCBI chr26:53,760,172...54,007,356
Ensembl chr26:53,792,593...54,007,489 		JBrowse link
G HTR2C 5-hydroxytryptamine receptor 2C ISO OMIM:176270 MouseDO NCBI chr  X:102,190,355...102,499,928
Ensembl chr  X:102,325,731...102,497,278 		JBrowse link
G MAGEL2 MAGE family member L2 ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:25741868 PMID:27195816 PMID:28281571 PMID:28492532 PMID:28631899 NCBI chr26:57,975,936...57,980,492 JBrowse link
G MKRN3 makorin ring finger protein 3 ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr26:58,056,674...58,059,921
Ensembl chr26:58,057,374...58,058,897 		JBrowse link
G NDN necdin, MAGE family member ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:25741868 PMID:28631899 NCBI chr26:57,939,212...57,940,868
Ensembl chr26:57,939,330...57,940,295 		JBrowse link
G NPAP1 nuclear pore associated protein 1 ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28631899 NCBI chr26:57,306,094...57,311,033
Ensembl chr26:57,306,809...57,310,288 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr26:54,022,346...54,429,991
Ensembl chr26:54,039,197...54,352,774 		JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N susceptibility ISO DNA:deletion
ClinVar Annotator: match by term: Prader-Willi syndrome		 RGD
ClinVar		 PMID:8723064 PMID:28631899 RGD:1601354 NCBI chr26:57,087,556...57,198,464
Ensembl chr26:57,087,695...57,091,671 		JBrowse link
G SNURF SNRPN upstream open reading frame ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr26:57,087,558...57,111,378 JBrowse link
G UBE3A ubiquitin protein ligase E3A ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr26:56,638,936...56,738,555
Ensembl chr26:56,666,162...56,736,737 		JBrowse link
Schaaf-Yang syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYFIP1 cytoplasmic FMR1 interacting protein 1 ISO associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human) RGD PMID:17435464 RGD:11558012 NCBI chr26:53,562,105...53,673,544
Ensembl chr26:53,595,767...53,672,977 		JBrowse link
G MAGEL2 MAGE family member L2 ISO ClinVar Annotator: match by term: MAGEL2-related condition | ClinVar Annotator: match by term: Schaaf-Yang syndrome OMIM
ClinVar		 PMID:24076603 PMID:24088041 PMID:25326635 PMID:25473036 PMID:25590979 More... NCBI chr26:57,975,936...57,980,492 JBrowse link
G SIM1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Schaaf-Yang syndrome ClinVar PMID:25741868 NCBI chr13:73,451,838...73,527,733
Ensembl chr13:73,453,800...73,527,198 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15272
    syndrome 9980
      Prader-Willi syndrome 18
        Prader-Willi Habitus, Osteopenia, and Camptodactyly 0
        Prader-Willi-Like Syndrome Associated with Chromosome 6 0
        Schaaf-Yang syndrome 3
Path 2
Term Annotations click to browse term
  disease 15272
    disease of anatomical entity 14892
      nervous system disease 12970
        central nervous system disease 11623
          brain disease 10912
            disease of mental health 7850
              developmental disorder of mental health 5362
                specific developmental disorder 4392
                  intellectual disability 4203
                    Prader-Willi syndrome 18
                      Prader-Willi Habitus, Osteopenia, and Camptodactyly 0
                      Prader-Willi-Like Syndrome Associated with Chromosome 6 0
                      Schaaf-Yang syndrome 3
paths to the root