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GENE - TERM ANNOTATION REPORT

RGD ID: 737247
Species: Mus musculus
RGD Object: Gene
Symbol: Arl3
Name: ADP-ribosylation factor-like 3
Acc ID: DOID:9009273
Term: Retinitis Pigmentosa 83
Definition: Retinitis pigmentosa-83 (RP83) is characterized by onset of night blindness in the first decade of life, with decreased central vision in the second decade of life in association with retinal degeneration. The retinal dystrophy is associated with cataract, and macular edema has also been reported in some patients. RP83 is caused by heterozygous mutation in the ARL3 gene on chromosome 10q24. (OMIM)
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)
 ISORGD:7342277240710OMIM  
 ISORGD:7342278554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 83

PMID:25741868, PMID:26964041, PMID:30932721
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.