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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 8
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Accession:DOID:0111003 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2. (DO)
Synonyms:exact_synonym: JBTS8
 primary_id: MESH:C567358;   RDO:0015449
 alt_id: OMIM:612291
For additional species annotation, visit the Alliance of Genome Resources.



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Joubert syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13b ADP-ribosylation factor like GTPase 13B ISO DNA:missense mutations, nonsense mutation:p.R79Q, p.R200C, p.W82X (human)
ClinVar Annotator: match by term: Joubert syndrome 8
OMIM
ClinVar
RGD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18674751 PMID:24033266 More... RGD:11553937 NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
JBrowse link
G Nsun3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr11:37,490,832...37,575,607
Ensembl chr11:37,490,838...37,568,543
JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr11:172,855...178,053
Ensembl chr11:171,395...179,191
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    sensory system disease 6409
      eye disease 2937
        Hereditary Eye Diseases 758
          Joubert syndrome 8 4
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            ciliopathy 666
              Joubert syndrome 316
                Joubert syndrome 8 4
paths to the root