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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 16
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Accession:DOID:0110985 term browser browse the term
Definition:A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. (DO)
Synonyms:exact_synonym: JBTS16
 primary_id: OMIM:614465



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Joubert Syndrome 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Joubert syndrome 16 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22282472 PMID:25741868 PMID:26092869 More... NCBI chr 1:207,219,113...207,226,159 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    syndrome 10776
      ciliopathy 1020
        Joubert syndrome 414
          Joubert Syndrome 16 1
Path 2
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18300
        genetic disease 18244
          monogenic disease 10306
            ciliopathy 1020
              Joubert syndrome 414
                Joubert Syndrome 16 1
paths to the root