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GENE - TERM ANNOTATION REPORT

RGD ID: 12687938
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Rdh5
Name: retinol dehydrogenase 5
Acc ID: DOID:11105
Term: fundus albipunctatus
Definition: A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. (DO)
Definition Source(s): http://www.omim.org/entry/136880 "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)
Rdh5 ISORDH5 (Homo sapiens)7240710OMIM  
Rdh5 ISORDH5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Fundus albipunctatus, autosomal recessive | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescensPMID:10369264 PMID:10617778 PMID:11053295 PMID:11053296 PMID:11078852 PMID:11153648 PMID:11470705 PMID:11675386 PMID:14991316 PMID:15007239 PMID:15302662 PMID:15790919 PMID:17476461 PMID:18949499 PMID:20829743 PMID:21529959 PMID:22669287 PMID:22736946 PMID:22815624 PMID:24033266 PMID:25587058 PMID:25741868 PMID:25820994 PMID:28393863 PMID:28492532 PMID:29847639 PMID:30718709 PMID:32232344 PMID:32531858 PMID:36909829
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