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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 31
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Accession:DOID:0080277 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23. (DO)
Synonyms:exact_synonym: JBTS31
 primary_id: MIM:617761


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Joubert syndrome 31 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP120 centrosomal protein 120 IAGP ClinVar Annotator: match by term: Joubert syndrome 31 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27208211 PMID:28492532 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97543
    syndrome 29783
      ciliopathy 1365
        Joubert syndrome 491
          Joubert syndrome 31 1
Path 2
Term Annotations click to browse term
  disease 97543
    Developmental Disease 35157
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 28638
        genetic disease 27133
          monogenic disease 19836
            ciliopathy 1365
              Joubert syndrome 491
                Joubert syndrome 31 1
paths to the root