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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 on chromosome 8q22. (DO)
Synonyms:exact_synonym: JBTS6
 primary_id: MESH:C537689;   RDO:0003571
 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
OMIM
ClinVar
PMID:2929661 PMID:8862632 PMID:9375913 PMID:10567047 PMID:12368986 PMID:16541367 PMID:17160906 PMID:17377820 PMID:17397051 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:23559409 PMID:25326635 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27457812 PMID:27491411 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28719906 PMID:28973083 PMID:29127258 PMID:29891882 PMID:29974258 PMID:31319225, PMID:17160906 RGD:11072184 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    sensory system disease 5168
      eye disease 2582
        ocular motility disease 127
          Joubert syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        peripheral nervous system disease 2425
          neuropathy 2241
            cranial nerve disease 407
              ocular motility disease 127
                Joubert syndrome 6 1
paths to the root