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GENE - TERM ANNOTATION REPORT

RGD ID: 1314131
Species: Mus musculus
RGD Object: Gene
Symbol: Astn2
Name: astrotactin 2
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.
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