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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: MIM:176270
 xref: GARD:5575;   ICD10CM:Q87.11;   ICD9CM:759.81;   NCI:C75463;   ORDO:739
For additional species annotation, visit the Alliance of Genome Resources.


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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 1:109,556,760...109,730,440
Ensembl chr 1:109,556,782...109,730,437 		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 1:108,268,728...108,381,670
Ensembl chr 1:108,268,776...108,380,917 		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 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961 		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 1:107,627,450...108,247,483
Ensembl chr 1:107,627,390...108,246,763 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO RGD PMID:15788704 PMID:15057669 RGD:1642818, RGD:12905043 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621 		JBrowse link
G Hcrt hypocretin neuropeptide precursor ISO RGD PMID:15613151 RGD:1600935 NCBI chr10:85,689,979...85,691,214
Ensembl chr10:85,689,465...85,691,210 		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:28492532 PMID:28631899 NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134 		JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISS OMIM:176270 MouseDO NCBI chr  X:110,640,777...110,870,288
Ensembl chr  X:110,641,153...110,870,287 		JBrowse link
G Magel2 MAGE family member L2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:176270
ClinVar Annotator: match by term: Prader-Willi syndrome		 CTD
MouseDO
ClinVar		 PMID:24076603 PMID:25741868 PMID:27195816 PMID:28281571 PMID:28492532 More... NCBI chr 1:115,880,142...115,884,684
Ensembl chr 1:115,880,474...115,884,250 		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 1:115,926,774...115,929,288
Ensembl chr 1:115,926,776...115,929,283 		JBrowse link
G Ndn necdin, MAGE family member ISO
ISS		 OMIM:176270
ClinVar Annotator: match by term: Prader-Willi syndrome		 MouseDO
ClinVar
RGD		 PMID:25741868 PMID:28631899 PMID:9630521 RGD:1601480 NCBI chr 1:115,849,168...115,850,767
Ensembl chr 1:115,849,105...115,850,767 		JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074 		JBrowse link
G Snrpn small nuclear ribonucleoprotein polypeptide N susceptibility ISO
ISS		 DNA:deletion
OMIM:176270
ClinVar Annotator: match by term: Prader-Willi syndrome		 MouseDO
ClinVar
RGD		 PMID:28631899 PMID:8723064 RGD:1601354 NCBI chr 1:111,101,327...111,123,400
Ensembl chr 1:111,101,329...111,123,634 		JBrowse link
G Snurf SNRPN upstream open reading frame ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr 1:111,101,327...111,123,634
Ensembl chr 1:111,101,329...111,123,634 		JBrowse link
G Ube3a ubiquitin protein ligase E3A ISO ClinVar Annotator: match by term: Prader-Willi syndrome ClinVar PMID:28631899 NCBI chr 1:110,070,260...110,161,675
Ensembl chr 1:110,070,480...110,157,250 		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 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386 		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 chr 1:115,880,142...115,884,684
Ensembl chr 1:115,880,474...115,884,250 		JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Schaaf-Yang syndrome ClinVar NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      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 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            disease of mental health 8425
              developmental disorder of mental health 5646
                specific developmental disorder 4603
                  intellectual disability 4382
                    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