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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:16103129 PMID:18285826 PMID:19074458 PMID:19217903 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:27535533 PMID:28041643 PMID:28118664 PMID:28181551 PMID:28327576 PMID:28446513 PMID:28492532 PMID:28559085 PMID:29555955 PMID:29847635 PMID:30060493 PMID:30718709 PMID:33223529 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
OMIM
ClinVar
PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17617513 PMID:17705300 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:24850569 PMID:25097241 PMID:25377065 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26673778 PMID:27353947 PMID:27491411 PMID:27848944 PMID:28041643 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:29146704 PMID:29398085 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 16091
    sensory system disease 5176
      eye disease 2591
        ocular motility disease 129
          Joubert syndrome 5 3
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            cranial nerve disease 408
              ocular motility disease 129
                Joubert syndrome 5 3
paths to the root