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GENE - TERM ANNOTATION REPORT

RGD ID: 71091
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Bbs2
Name: Bardet-Biedl syndrome 2
Acc ID: DOID:10584
Term: retinitis pigmentosa
Definition: A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Retinitis_pigmentosa "DO" "DO", http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa "DO" "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/ "DO" "DO", https://www.genome.gov/Genetic-Disorders/Retinitis-Pigmentosa "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)
Bbs2 ISOBBS2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosaPMID:11285252 PMID:11567139 PMID:17576681 PMID:19402160 PMID:20120035 PMID:20177705 PMID:20498079 PMID:21052717 PMID:21344540 PMID:21642631 PMID:22401627 PMID:22410627 PMID:23829372 PMID:24033266 PMID:24608809 PMID:25133751 PMID:25412400 PMID:25541840 PMID:25741868 PMID:26355662 PMID:26467025 PMID:26518167 PMID:27659767 PMID:27894351 PMID:28492532 PMID:28559085 PMID:30718709 PMID:31456290 PMID:31530639 PMID:31877679 PMID:31980526 PMID:32037395 PMID:33777945 PMID:33921607 PMID:34008892 PMID:34906470 PMID:35112343 PMID:35886001 PMID:9536098
Bbs2 ISOBBS2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosaPMID:11285252 PMID:11567139 PMID:17576681 PMID:19402160 PMID:20120035 PMID:20177705 PMID:20498079 PMID:21052717 PMID:21344540 PMID:21642631 PMID:22401627 PMID:22410627 PMID:23829372 PMID:24033266 PMID:24608809 PMID:25133751 PMID:25412400 PMID:25541840 PMID:25741868 PMID:26355662 PMID:26467025 PMID:26518167 PMID:27659767 PMID:27894351 PMID:28492532 PMID:28559085 PMID:30718709 PMID:31456290 PMID:31530639 PMID:31980526 PMID:32037395 PMID:33777945 PMID:33921607 PMID:34008892 PMID:34906470 PMID:35112343 PMID:35886001 PMID:9536098
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