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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 38
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Accession:DOID:9005615 term browser browse the term
Definition:Characterized by hypotonia, global developmental delay, oculomotor apraxia, and breathing abnormalities, with a 'molar tooth sign' on brain MRI. Caused by compound heterozygous mutation in the KIAA0753 gene on chromosome 17p13. (OMIM)
Synonyms:exact_synonym: JBTS38
 primary_id: OMIM:619476


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Joubert Syndrome 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933427D14Rikl RIKEN cDNA 4933427D14 gene like ISO ClinVar Annotator: match by term: Joubert syndrome 38 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26643951 PMID:28220259 More... NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      ciliopathy 1022
        Joubert syndrome 414
          Joubert Syndrome 38 1
Path 2
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18307
        genetic disease 18251
          monogenic disease 10375
            ciliopathy 1022
              Joubert syndrome 414
                Joubert Syndrome 38 1
paths to the root