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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
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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.


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 chr 1:115,973,343...116,141,892
Ensembl chr 1:115,975,324...116,141,892
JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr 1:112,833,941...112,947,482
Ensembl chr 1:112,833,944...112,947,451
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
JBrowse link
G Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr 1:112,158,525...112,812,267
Ensembl chr 1:112,158,519...112,811,936
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO RGD PMID:15788704, PMID:15057669 RGD:1642818, RGD:12905043 NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
JBrowse link
G Hcrt hypocretin neuropeptide precursor ISO RGD PMID:15613151 RGD:1600935 NCBI chr10:88,669,216...88,670,430
Ensembl chr10:88,669,214...88,670,430
JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Prader-Willi syndrome
CTD
ClinVar
PMID:25741868, PMID:28631899 NCBI chr 1:114,453,033...114,653,787
Ensembl chr 1:114,453,054...114,653,793
JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISS OMIM:176270 MouseDO NCBI chr  X:118,084,520...118,318,040
Ensembl chr  X:118,084,890...118,318,039
JBrowse link
G Magel2 MAGE family member L2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Prader-Willi syndrome
CTD
ClinVar
PMID:8424017, PMID:11891783, PMID:17728320, PMID:19066619, PMID:19172181, PMID:21248145, PMID:24076603, PMID:24661356, PMID:25473036, PMID:25741868, PMID:26365340, PMID:27195816, PMID:28281571, PMID:28492532, PMID:28631899 NCBI chr 1:123,015,404...123,019,945
Ensembl chr 1:123,015,746...123,019,522
JBrowse link
G Mkrn3 makorin, ring finger protein, 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Prader-Willi syndrome
CTD
ClinVar
PMID:28631899 NCBI chr 1:123,062,049...123,064,763
Ensembl chr 1:123,062,863...123,064,642
JBrowse link
G Ndn necdin, MAGE family member ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar
OMIM
PMID:25741868, PMID:28631899, PMID:9630521 RGD:1601480 NCBI chr 1:122,981,755...122,983,354
Ensembl chr 1:122,981,755...122,983,351
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433
JBrowse link
G Snrpn small nuclear ribonucleoprotein polypeptide N susceptibility ISO DNA:deletion
ClinVar Annotator: match by term: Prader-Willi syndrome
ClinVar
OMIM
PMID:28631899, PMID:8723064 RGD:1601354 NCBI chr 1:195,074,328...195,096,460
Ensembl chr 1:195,074,330...195,096,460
JBrowse link
G Snurf SNRPN upstream reading frame ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr 1:195,074,328...195,096,694
Ensembl chr 1:195,074,330...195,096,694
JBrowse link
G Ube3a ubiquitin protein ligase E3A ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr 1:116,586,901...116,678,161
Ensembl chr 1:116,587,815...116,679,973
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 chr 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137
JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: Schaaf-Yang syndrome
ClinVar Annotator: match by term: Schaaf-yang syndrome
ClinVar Annotator: match by OMIM:615547
OMIM
ClinVar
PMID:8424017, PMID:11891783, PMID:17728320, PMID:19066619, PMID:19172181, PMID:21248145, PMID:24076603, PMID:24088041, PMID:24661356, PMID:25326635, PMID:25473036, PMID:25741868, PMID:26365340, PMID:26633545, PMID:27195816, PMID:28281571, PMID:29599419, PMID:31397880, PMID:32860008 NCBI chr 1:123,015,404...123,019,945
Ensembl chr 1:123,015,746...123,019,522
JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Schaaf-yang syndrome ClinVar NCBI chr20:55,590,810...55,674,002
Ensembl chr20:55,594,676...55,673,995
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Prader-Willi syndrome 17
        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 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    Prader-Willi syndrome 17
                      Prader-Willi Habitus, Osteopenia, and Camptodactyly 0
                      Prader-Willi-Like Syndrome Associated with Chromosome 6 0
                      Schaaf-Yang syndrome 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.