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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 27
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Accession:DOID:0110996 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11. (DO)
Synonyms:exact_synonym: JBTS27
 primary_id: OMIM:617120;   RDO:9001266
For additional species annotation, visit the Alliance of Genome Resources.



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Joubert Syndrome 27 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by OMIM:617120
ClinVar Annotator: match by term: Joubert syndrome 27
ClinVar
OMIM
PMID:21493627 PMID:24886560 PMID:25741868 PMID:25920555 PMID:26092869 More... NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    syndrome 8267
      ciliopathy 279
        Joubert syndrome 92
          Joubert Syndrome 27 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          brain disease 9870
            disease of mental health 7143
              developmental disorder of mental health 4462
                specific developmental disorder 3707
                  intellectual disability 3518
                    Joubert Syndrome 27 1
paths to the root