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Term:Angelman syndrome
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Accession:DOID:1932 term browser browse the term
Definition:A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence 'happy'); jerky puppetlike movements (hence 'puppet'); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
Synonyms:exact_synonym: AS;   happy puppet syndrome;   puppet children;   puppetlike syndrome
 primary_id: MESH:D017204
 alt_id: MESH:C531619;   OMIM:105830
 xref: GARD:5810;   NCI:C75462
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Angelman 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 Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:11554173
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 JBrowse link 1 112,833,941 112,947,482 RGD:8554872
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 JBrowse link 1 113,034,251 113,265,364 RGD:8554872
G Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 JBrowse link 1 112,158,525 112,812,267 RGD:8554872
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 114,453,033 114,653,787 RGD:8554872
G Magel2 MAGE family member L2 JBrowse link 1 123,015,404 123,019,945 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Mkrn3 makorin, ring finger protein, 3 JBrowse link 1 123,062,049 123,064,763 RGD:8554872
G Ndn necdin, MAGE family member JBrowse link 1 122,981,755 122,983,354 RGD:8554872
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:8554872
G Rnf4 ring finger protein 4 JBrowse link 14 81,658,400 81,679,756 RGD:9831454
G Snrpn small nuclear ribonucleoprotein polypeptide N JBrowse link 1 195,074,328 195,096,460 RGD:8554872
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:1358469

Term paths to the root
Path 1
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  disease 15553
    syndrome 5224
      Angelman syndrome 15
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            movement disease 1010
              Angelman syndrome 15
paths to the root


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