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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 35
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Accession:DOID:9001060 term browser browse the term
Synonyms:exact_synonym: JBTS35
 primary_id: OMIM:618161


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JOUBERT SYNDROME 35 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL3 ADP ribosylation factor like GTPase 3 IAGP ClinVar Annotator: match by term: Joubert syndrome 35 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30269812 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35757
    syndrome 18161
      ciliopathy 1362
        Joubert syndrome 489
          JOUBERT SYNDROME 35 1
Path 2
Term Annotations click to browse term
  disease 35757
    Developmental Disease 28591
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24618
        genetic disease 23804
          monogenic disease 18603
            ciliopathy 1362
              Joubert syndrome 489
                JOUBERT SYNDROME 35 1
paths to the root