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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 6
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Accession:DOID:0111001 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22. (DO)
Synonyms:exact_synonym: JBTS6
 primary_id: MESH:C537689
 alt_id: OMIM:610688



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    sensory system disease 7035
      eye disease 3497
        ocular motility disease 249
          Joubert syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        Neurologic Manifestations 10113
          sensory system disease 7035
            eye disease 3497
              ocular motility disease 249
                Joubert syndrome 6 1
paths to the root