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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 ClinVar Annotator: match by OMIM:612291
ClinVar Annotator: match by term: Joubert syndrome 8
DNA:missense mutations, nonsense mutation:p.R79Q, p.R200C, p.W82X (human)
OMIM
ClinVar
PMID:18674751, PMID:25138100, PMID:25741868, PMID:26092869, PMID:28492532, PMID:18674751 RGD:11553937 NCBI chr 7:1,122,567...1,188,209
Ensembl chr 7:1,122,567...1,188,209
JBrowse link
G Nsun3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr11:38,535,971...38,590,274
Ensembl chr11:38,536,165...38,590,107
JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr 7:1,145,002...1,149,978 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      eye disease 2652
        Hereditary Eye Diseases 576
          Joubert syndrome 8 4
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            ciliopathy 227
              Joubert syndrome 70
                Joubert syndrome 8 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.