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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
 alt_id: OMIM:612291


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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 IAGP
EXP		 DNA:missense mutations, nonsense mutation:p.R79Q, p.R200C, p.W82X (human)
ClinVar Annotator: match by term: Joubert syndrome 8
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18674751 PMID:23150559 More... RGD:11553937 NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678 		JBrowse link
G DHFR2 dihydrofolate reductase 2 IAGP ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr 3:94,057,922...94,063,320
Ensembl chr 3:94,047,836...94,063,389 		JBrowse link
G NSUN3 NOP2/Sun RNA methyltransferase 3 IAGP ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr 3:94,063,061...94,131,832
Ensembl chr 3:94,062,980...94,131,832 		JBrowse link
G PROS1 protein S IAGP ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003 		JBrowse link
G STX19 syntaxin 19 IAGP ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr 3:94,014,365...94,028,597
Ensembl chr 3:94,014,365...94,028,597 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35757
    sensory system disease 9841
      eye disease 4968
        Hereditary Eye Diseases 1634
          Joubert syndrome 8 5
Path 2
Term Annotations click to browse term
  disease 35757
    Pathological Conditions, Signs and Symptoms 21555
      Signs and Symptoms 16421
        Neurologic Manifestations 15493
          sensory system disease 9841
            eye disease 4968
              Hereditary Eye Diseases 1634
                Joubert syndrome 8 5
paths to the root