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Joubert syndrome 31 - Ontology Report - Rat Genome Database

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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
 broad_synonym: CEP120-RELATED CONDITION
 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 ISO ClinVar Annotator: match by term: CEP120-related condition | ClinVar Annotator: match by term: Joubert syndrome 31 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27208211 PMID:28492532 NCBI chr18:49,326,266...49,388,380
Ensembl chr18:47,127,981...47,189,964 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      ciliopathy 1031
        Joubert syndrome 417
          Joubert syndrome 31 1
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            ciliopathy 1031
              Joubert syndrome 417
                Joubert syndrome 31 1
paths to the root