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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 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 on chromosome 8q22. (DO)
Synonyms:exact_synonym: JBTS6
 primary_id: MESH:C537689
 alt_id: OMIM:610688
For additional species annotation, visit the Alliance of Genome Resources.

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Joubert syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by OMIM:610688
ClinVar Annotator: match by null
DNA:missense mutations, splice-site mutations: :multiple
ClinVar Annotator: match by term: Joubert syndrome 6
PMID:2929661 PMID:8862632 PMID:9375913 PMID:10567047 PMID:12368986 More... RGD:11072184 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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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 6 1
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 6 1
paths to the root