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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 23
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Accession:DOID:0110992 term browser browse the term
Definition:An autosomal recessive neurodevelopmental disorder characterized by delayed development, abnormal eye movements, and abnormal breathing pattern associated with a characteristic hindbrain malformation apparent on brain imaging and known as the 'molar tooth sign'. (OMIM)
Synonyms:exact_synonym: JBTS23
 primary_id: OMIM:616490;   RDO:9001290
For additional species annotation, visit the Alliance of Genome Resources.


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Joubert Syndrome 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC690035 similar to Protein KIAA0586 ISO ClinVar Annotator: match by term: Joubert syndrome 23 OMIM
ClinVar
PMID:2609613, PMID:24033266, PMID:25741868, PMID:26026149, PMID:26096313, PMID:26166481, PMID:26386044, PMID:26386247, PMID:26437029, PMID:26938784, PMID:28125082, PMID:28492532, PMID:28497568, PMID:29068549, PMID:30120217, PMID:30311386, PMID:32581362 NCBI chr 6:93,562,775...93,667,857
Ensembl chr 6:93,563,446...93,667,675
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      ciliopathy 227
        Joubert syndrome 70
          Joubert Syndrome 23 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            ciliopathy 227
              Joubert syndrome 70
                Joubert Syndrome 23 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.