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Joubert Syndrome 37 - 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 37
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Accession:DOID:9007319 term browser browse the term
Definition:An autosomal recessive neurodevelopmental ciliopathy characterized classically by a distinctive hindbrain malformation affecting the midbrain and cerebellum, recognizable as the 'molar tooth sign' on brain imaging. Caused by homozygous or compound heterozygous mutation in the TOGARAM1 gene on chromosome 14q21. (OMIM)
Synonyms:exact_synonym: JBTS37
 primary_id: MIM:619185

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Joubert Syndrome 37 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Joubert syndrome 37 OMIM
ClinVar		 PMID:25741868 PMID:32453716 PMID:32747439 NCBI chr 6:88,755,264...88,819,599
Ensembl chr 6:83,018,859...83,082,807 		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 37 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 37 1
paths to the root