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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.


show annotations for term's descendants           Sort by:
 
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: Angelman syndrome
ClinVar Annotator: match by term: HAPPY PUPPET 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:11227330, 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:12615169, PMID:12655490, PMID:12673788, PMID:12707946, PMID:12746406, PMID:12843318, PMID:12872250, PMID:12966523, PMID:14560307, PMID:14649554, PMID:15057977, PMID:15173251, PMID:15389714, PMID:15526954, PMID:15558314, PMID:15737703, PMID:15866439, PMID:16122633, PMID:16169931, PMID:16183801, PMID:16473305, PMID:16629931, PMID:16672765, PMID:16690727, PMID:16832102, PMID:16905679, PMID:17089071, PMID:17236109, PMID:17267601, 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: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:21154482, 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:24399845, PMID:24458799, PMID:24511209, PMID:24916645, PMID:24970834, PMID:25167861, PMID:25741868, PMID:26175308, PMID:26418480, PMID:26467025, PMID:26647311, PMID:27354166, PMID:27929079, PMID:28492532, PMID:30311386, 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: Angelman syndrome
ClinVar Annotator: match by term: HAPPY PUPPET SYNDROME
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:105830
ClinVar
CTD
OMIM
PMID:2309781, PMID:8988171, PMID:8988172, PMID:9585605, PMID:9600250, PMID:9792887, PMID:9887341, PMID:11748306, PMID:12210318, PMID:12725589, PMID:15054837, PMID:15150776, PMID:15263005, PMID:15878204, PMID:16470747, PMID:17765640, PMID:17940072, PMID:18414213, PMID:18821858, PMID:19213023, PMID:20034088, PMID:21072004, PMID:22190369, PMID:22670133, PMID:23495136, PMID:24088041, PMID:24796722, PMID:24876791, PMID:25099823, PMID:25212744, PMID:25326635, PMID:25326637, PMID:25741868, PMID:25884337, PMID:26068938, PMID:26219744, 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 16058
    syndrome 6996
      Angelman syndrome 19
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
            movement disease 1159
              Angelman syndrome 19
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.