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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: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
 narrow_synonym: ANCR;   ANGELMAN SYNDROME CHROMOSOME REGION
 primary_id: MESH:D017204
 alt_id: MESH:C531619;   OMIM:105830
 xref: GARD:5810;   ICD10CM:Q93.51;   NCI:C75462;   ORDO:72
For additional species annotation, visit the Alliance of Genome Resources.

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Angelman 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: Angelman syndrome ClinVar PMID:12210318 PMID:18821858 PMID:22190369 PMID:23495136 PMID:24088041 PMID:25099823 PMID:25884337 PMID:26633545 PMID:28492532 NCBI chr 1:115,973,343...116,141,892
Ensembl chr 1:115,975,324...116,141,892 		JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19241098 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711 		JBrowse link
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar NCBI chr 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137 		JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:24088041 PMID:26633545 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: Angelman syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:15878204 PMID:24088041 PMID:26633545 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: Angelman syndrome ClinVar PMID:24088041 PMID:25741868 PMID:26633545 NCBI chr 1:112,158,525...112,812,267
Ensembl chr 1:112,158,519...112,811,936 		JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr 1:114,453,033...114,653,787
Ensembl chr 1:114,453,054...114,653,793 		JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr 1:123,015,404...123,019,945
Ensembl chr 1:123,015,746...123,019,522 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by OMIM:105830
ClinVar Annotator: match by term: HAPPY PUPPET SYNDROME
ClinVar Annotator: match by term: Angelman syndrome		 ClinVar PMID:1191367 PMID:8177735 PMID:10508514 PMID:10577905 PMID:10745042 PMID:10767337 PMID:10814718 PMID:10814719 PMID:10852707 PMID:10854091 PMID:10944834 PMID:10944854 PMID:10991688 PMID:10991689 PMID:11022934 PMID:11035019 PMID:11055878 PMID:11055898 PMID:11058114 PMID:11071498 PMID:11214906 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11283202 PMID:11309679 PMID:11313756 PMID:11313764 PMID:11376998 PMID:11392517 PMID:11402105 PMID:11462237 PMID:11469283 PMID:11524741 PMID:11738860 PMID:11738864 PMID:11738866 PMID:11738879 PMID:11738883 PMID:11738885 PMID:11746022 PMID:11913567 PMID:11960578 PMID:12065946 PMID:12081725 PMID:12111643 PMID:12180070 PMID:12210319 PMID:12325033 PMID:12418965 PMID:12567420 PMID:12655490 PMID:12673788 PMID:12707946 PMID:12719401 PMID:12746406 PMID:12843318 PMID:12872250 PMID:12966523 PMID:14560307 PMID:14649554 PMID:15057977 PMID:15173251 PMID:15389714 PMID:15526954 PMID:15737703 PMID:15866439 PMID:16122633 PMID:16183801 PMID:16473305 PMID:16629931 PMID:16672765 PMID:16690727 PMID:16905679 PMID:17089071 PMID:17236109 PMID:17276711 PMID:17341617 PMID:17351020 PMID:17387578 PMID:17881312 PMID:17986102 PMID:18174548 PMID:18174559 PMID:18332345 PMID:18337588 PMID:18414213 PMID:18499664 PMID:18562141 PMID:18989701 PMID:19133691 PMID:19189931 PMID:19217433 PMID:19234536 PMID:19309269 PMID:19309283 PMID:19371229 PMID:19442733 PMID:19552836 PMID:19573459 PMID:19652677 PMID:19722030 PMID:19914908 PMID:20031356 PMID:20093853 PMID:20116947 PMID:20231667 PMID:20301670 PMID:20631224 PMID:20661168 PMID:21160487 PMID:21372149 PMID:21420494 PMID:21831886 PMID:21954873 PMID:21982064 PMID:22277191 PMID:22368975 PMID:22476991 PMID:22525432 PMID:22561697 PMID:23238081 PMID:23260135 PMID:23262346 PMID:23270700 PMID:23421866 PMID:23770565 PMID:23770587 PMID:23810759 PMID:23921973 PMID:24511209 PMID:24916645 PMID:24970834 PMID:25167861 PMID:25741868 PMID:25927341 PMID:26175308 PMID:26418480 PMID:26467025 PMID:26647311 PMID:27929079 PMID:28135719 PMID:28394482 PMID:28492532 PMID:30564305 PMID:30868116 PMID:32860008 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233 		JBrowse link
G Mkrn3 makorin, ring finger protein, 3 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:24088041 PMID:26633545 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: Angelman syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr 1:122,981,755...122,983,354
Ensembl chr 1:122,981,755...122,983,351 		JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar NCBI chr 1:114,385,484...114,422,741
Ensembl chr 1:114,386,757...114,422,733 		JBrowse link
G Nipa2 NIPA magnesium transporter 2 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar NCBI chr 1:114,346,005...114,371,907
Ensembl chr 1:114,348,038...114,371,897 		JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433 		JBrowse link
G Rnf4 ring finger protein 4 ISO mRNA:increased expression:blood (human) RGD PMID:15014980 RGD:9831454 NCBI chr14:81,658,400...81,679,756
Ensembl chr14:81,660,354...81,679,082 		JBrowse link
G Snrpn small nuclear ribonucleoprotein polypeptide N ISO
ISS		 ClinVar Annotator: match by term: Angelman syndrome
OMIM:105830		 ClinVar
MouseDO		 PMID:12210318 PMID:18821858 PMID:22190369 PMID:23495136 PMID:24088041 PMID:25099823 PMID:25884337 PMID:26633545 PMID:28492532 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: Angelman syndrome ClinVar PMID:12210318 PMID:18821858 PMID:22190369 PMID:23495136 PMID:24088041 PMID:25099823 PMID:25884337 PMID:26633545 PMID:28492532 NCBI chr 1:195,074,328...195,096,694
Ensembl chr 1:195,074,330...195,096,694 		JBrowse link
G Tubgcp5 tubulin, gamma complex associated protein 5 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar NCBI chr 1:114,186,853...114,222,516
Ensembl chr 1:114,186,853...114,222,516 		JBrowse link
G Ube3a ubiquitin protein ligase E3A treatment ISO ClinVar Annotator: match by term: HAPPY PUPPET SYNDROME
ClinVar Annotator: match by term: Angelman syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:105830		 ClinVar
CTD
OMIM		 PMID:8988171 PMID:8988172 PMID:9585605 PMID:9600250 PMID:9792887 PMID:9887341 PMID:11748306 PMID:12210318 PMID:12725589 PMID:14981718 PMID:15054837 PMID:15150776 PMID:15878204 PMID:18414213 PMID:18821858 PMID:19213023 PMID:20034088 PMID:21072004 PMID:22190369 PMID:23495136 PMID:24088041 PMID:24796722 PMID:25099823 PMID:25212744 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25884337 PMID:26068938 PMID:26255772 PMID:26467025 PMID:26633545 PMID:26993267 PMID:27620904 PMID:28281572 PMID:28492532 PMID:29188609, PMID:8988171, PMID:25470045, PMID:25866966 RGD:1358469, RGD:12859274, RGD:12859273 NCBI chr 1:116,586,901...116,678,161
Ensembl chr 1:116,587,815...116,679,973 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Angelman syndrome 19
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            movement disease 1094
              Angelman syndrome 19
paths to the root