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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 LOC100983857 transmembrane protein 231 ISO OMIM NCBI chr16:56,107,360...56,126,172
Ensembl chr16:75,455,303...75,473,874
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12771
    syndrome 6198
      ciliopathy 224
        Joubert syndrome 77
          Joubert syndrome 20 1
Path 2
Term Annotations click to browse term
  disease 12771
    Developmental Diseases 9044
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7866
        genetic disease 7409
          monogenic disease 5507
            ciliopathy 224
              Joubert syndrome 77
                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.