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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:8501
Term: fundus dystrophy
Definition: A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
Definition Source(s): MESH:D058499
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)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:15137946 PMID:16199547 PMID:16877420 PMID:21209035 PMID:25741868 PMID:26325687 PMID:27708425 PMID:28041643 PMID:28492532 PMID:29806606
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