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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Joubert syndrome 5
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Accession:DOID:0111000 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21. (DO)
Synonyms:exact_synonym: JBTS5
 primary_id: MESH:C537688
 alt_id: MIM:610188


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Joubert syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO
ISS		 DNA:deletions, insertion: :multiple
DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:frameshift mutations, nonsense mutations:CDS:multiple (human)
DNA:SNPs:multiple (human)
CTD Direct Evidence: marker/mechanism
OMIM:610188
ClinVar Annotator: match by term: Joubert syndrome 5		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:7246903, RGD:11537352, RGD:329853747, RGD:329902080 NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    syndrome 11180
      ciliopathy 1026
        Joubert syndrome 416
          Joubert syndrome 5 2
Path 2
Term Annotations click to browse term
  disease 19050
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          monogenic disease 10702
            ciliopathy 1026
              Joubert syndrome 416
                Joubert syndrome 5 2
paths to the root