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GENE - TERM ANNOTATION REPORT

RGD ID: 1306573
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Exosc2
Name: exosome component 2
Acc ID: DOID:0081175
Term: short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Definition: A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/26843489/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/34162742/ "DO" "DO"
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Exosc2 ISOEXOSC2 (Homo sapiens)7240710OMIM  
Exosc2 ISOEXOSC2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive faciesPMID:14647208 PMID:15060126 PMID:24447024 PMID:25741868 PMID:25741909 PMID:26843489 PMID:28492532 PMID:31628467 PMID:34162742
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