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GENE - TERM ANNOTATION REPORT

RGD ID: 1310718
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Bbs5
Name: Bardet-Biedl syndrome 5
Acc ID: DOID:1935
Term: Bardet-Biedl syndrome
Definition: A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Bardet-Biedl_syndrome "DO" "DO", http://en.wikipedia.org/wiki/Ciliopathy "DO" "DO", http://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome "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)
Bbs5 ISOBBS5 (Homo sapiens)1579974RGDDNA:insertion/deletion, nonsense mutation: :263_271delinsGCTCTTA, p.W59X (human) 
Bbs5 ISOBBS5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bardet-Biedl syndromePMID:15137946 PMID:16199547 PMID:16877420 PMID:17576681 PMID:18203199 PMID:19367329 PMID:19797195 PMID:20498079 PMID:21052717 PMID:21209035 PMID:21344540 PMID:22626039 PMID:22773737 PMID:24400638 PMID:24559376 PMID:25640679 PMID:25741868 PMID:25982971 PMID:26325687 PMID:26355662 PMID:26766544 PMID:27708425 PMID:28041643 PMID:28492532 PMID:29806606 PMID:30029678 PMID:30614526 PMID:30718709 PMID:31506453 PMID:31760295 PMID:32451492 PMID:32641690 PMID:32811249 PMID:33572860 PMID:37240074 PMID:37431782 PMID:9536098
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