ONTOLOGY REPORT - ANNOTATIONS


Term:Prader-Willi syndrome
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Accession:DOID:11983 term browser browse the term
Definition:An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
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-LABHART-WILLI SYNDROME PRADER-WILLI SYNDROME CHROMOSOME REGION;   PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6;   PWCR
 primary_id: MESH:D011218;   RDO:0004236
 alt_id: OMIM:176270
 xref: GARD:5575
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Prader-Willi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp10a ATPase phospholipid transporting 10A (putative) JBrowse link 1 115,973,343 116,141,892 RGD:8554872
G Gabra5 gamma-aminobutyric acid type A receptor alpha 5 subunit JBrowse link 1 112,833,941 112,947,482 RGD:8554872
G Gabrb3 gamma-aminobutyric acid type A receptor beta 3 subunit JBrowse link 1 113,034,251 113,265,364 RGD:8554872
G Gabrg3 gamma-aminobutyric acid type A receptor gamma 3 subunit JBrowse link 1 112,158,525 112,812,267 RGD:8554872
G Ghrl ghrelin and obestatin prepropeptide JBrowse link 4 145,674,157 145,678,066 RGD:1642818
RGD:12905043
G Hcrt hypocretin neuropeptide precursor JBrowse link 10 88,669,216 88,670,430 RGD:1600935
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 114,453,033 114,653,787 RGD:11554173
RGD:8554872
G Htr2c 5-hydroxytryptamine receptor 2C JBrowse link X 118,084,520 118,318,040 RGD:13592920
G Magel2 MAGE family member L2 JBrowse link 1 123,015,404 123,019,945 RGD:11554173
RGD:8554872
G Mkrn3 makorin, ring finger protein, 3 JBrowse link 1 123,062,049 123,064,763 RGD:11554173
RGD:8554872
G Ndn necdin, MAGE family member JBrowse link 1 122,981,755 122,983,354 RGD:1601480
RGD:8554872
RGD:7240710
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:8554872
G Snrpn small nuclear ribonucleoprotein polypeptide N JBrowse link 1 195,074,328 195,096,460 RGD:1601354
RGD:8554872
RGD:7240710
G Snurf SNRPN upstream reading frame JBrowse link 1 195,074,328 195,096,694 RGD:8554872
G Ube3a ubiquitin protein ligase E3A JBrowse link 1 116,586,901 116,678,161 RGD:8554872
Prader-Willi-Like Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyfip1 cytoplasmic FMR1 interacting protein 1 JBrowse link 1 114,258,773 114,347,138 RGD:11558012
G Magel2 MAGE family member L2 JBrowse link 1 123,015,404 123,019,945 RGD:7240710
RGD:8554872
G Sim1 SIM bHLH transcription factor 1 JBrowse link 20 55,590,810 55,674,002 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Prader-Willi syndrome 17
        Prader-Willi Habitus, Osteopenia, and Camptodactyly 0
        Prader-Willi-Like Syndrome 3
        Prader-Willi-Like Syndrome Associated with Chromosome 6 0
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    Prader-Willi syndrome 17
                      Prader-Willi Habitus, Osteopenia, and Camptodactyly 0
                      Prader-Willi-Like Syndrome 3
                      Prader-Willi-Like Syndrome Associated with Chromosome 6 0
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.