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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 20
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Accession:DOID:0110989 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23. (DO)
Synonyms:exact_synonym: JBTS20
 primary_id: OMIM:614970;   RDO:9000490
For additional species annotation, visit the Alliance of Genome Resources.


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Joubert syndrome 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM231 transmembrane protein 231 IAGP ClinVar Annotator: match by term: Joubert syndrome 20 ClinVar
OMIM
PMID:23012439, PMID:25741868, PMID:25869670, PMID:27449316, PMID:28492532 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,268
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    syndrome 7889
      ciliopathy 266
        Joubert syndrome 82
          Joubert syndrome 20 1
Path 2
Term Annotations click to browse term
  disease 18864
    Developmental Diseases 12169
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10001
        genetic disease 9471
          monogenic disease 6932
            ciliopathy 266
              Joubert syndrome 82
                Joubert syndrome 20 1
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.