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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 26
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Accession:DOID:0110995 term browser browse the term
Definition:A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12. (DO)
Synonyms:exact_synonym: JBTS26;   KATNIP-RELATED CONDITION
 primary_id: MIM:616784


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Joubert Syndrome 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KATNIP katanin interacting protein ISO ClinVar Annotator: match by term: Joubert syndrome 26 | ClinVar Annotator: match by term: KATNIP-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26714646 PMID:27245168 More... NCBI chr 6:18,905,110...19,100,614
Ensembl chr 6:18,905,360...19,100,507 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15675
    syndrome 10403
      ciliopathy 1023
        Joubert syndrome 416
          Joubert Syndrome 26 1
Path 2
Term Annotations click to browse term
  disease 15675
    Developmental Disease 13618
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12660
        genetic disease 12354
          monogenic disease 10464
            ciliopathy 1023
              Joubert syndrome 416
                Joubert Syndrome 26 1
paths to the root