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RGD uses the Human Disease Ontology (DO, 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:8002831, PMID:9054934, PMID:9295268, PMID:9781034, PMID:9973280, PMID:10090887, PMID:11017087, PMID:11919200, PMID:12037008, PMID:12796258, PMID:14709597, PMID:15494742, PMID:16103129, PMID:16546111, PMID:18285826, PMID:18977788, PMID:19074458, PMID:19217903, PMID:19230850, PMID:20696155, PMID:21786275, PMID:22025579, PMID:22264887, PMID:22312191, PMID:22427542, PMID:22661473, PMID:23769331, PMID:24033266, PMID:24265693, PMID:25082885, PMID:25087612, PMID:25097241, PMID:25640233, PMID:25712131, PMID:25741868, PMID:25921964, PMID:26527198, PMID:26593885, PMID:27491360, PMID:27535533, PMID:28041643, PMID:28118664, PMID:28181551, PMID:28327576, PMID:28446513, PMID:28492532, PMID:28559085, PMID:29555955, PMID:29847635, PMID:30060493, PMID:30311386, PMID:30718709, PMID:92952680 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
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
PMID:16682970, PMID:16682973, PMID:16909394, PMID:17345604, PMID:17409309, PMID:17564967, PMID:17564974, PMID:17617513, PMID:17964524, PMID:18327255, PMID:18414213, PMID:19466712, PMID:19764032, PMID:20683928, PMID:20690115, PMID:21068128, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:22355252, PMID:22693042, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23591405, PMID:23847139, PMID:23954617, PMID:24265693, PMID:25097241, PMID:25741868, PMID:25818971, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26467025, PMID:26477546, PMID:27353947, PMID:27491411, PMID:28041643, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29146704, PMID:29398085, PMID:30311386, PMID:30718709, PMID:17409309, PMID:17617513 RGD:7246903, RGD:11537352 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:28492532 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      eye disease 2664
        ocular motility disease 175
          Joubert syndrome 5 3
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            cranial nerve disease 477
              ocular motility disease 175
                Joubert syndrome 5 3
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.