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GENE - TERM ANNOTATION REPORT

RGD ID: 12418745
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: SLC5A10
Name: solute carrier family 5 member 10
Acc ID: DOID:0050777
Term: Joubert syndrome
Definition: A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Joubert_syndrome "DO" "DO", http://omim.org/entry/213300?search=joubert&highlight=joubert "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)
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