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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: OMIM:610188;   RDO:0003570
For additional species annotation, visit the Alliance of Genome Resources.



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Joubert syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:9054934 PMID:9295268 PMID:9973280 PMID:11017087 PMID:12037008 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:610188
DNA:deletions, insertion: :multiple
DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple
ClinVar Annotator: match by term: Joubert syndrome 5
OMIM
ClinVar
RGD
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:7246903, RGD:11537352 NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:20683928 PMID:25741868 PMID:28492532 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 17289
    sensory system disease 5680
      eye disease 2766
        ocular motility disease 132
          Joubert syndrome 5 3
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            cranial nerve disease 484
              ocular motility disease 132
                Joubert syndrome 5 3
paths to the root