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GENE - TERM ANNOTATION REPORT

RGD ID: 1604115
Species: Homo sapiens
RGD Object: Gene
Symbol: SNORD116-3
Name: small nucleolar RNA, C/D box 116-3
Acc ID: DOID:1932
Term: Angelman syndrome
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)
Definition Source(s): MESH:D017204, https://en.wikipedia.org/wiki/Angelman_syndrome, https://ghr.nlm.nih.gov/condition/angelman-syndrome#genes
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 IAGPRGD:138194998554872ClinVarClinVar Annotator: match by term: Angelman syndrome

PMID:12210318, PMID:18821858, PMID:22190369, PMID:25099823, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.