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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 10
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Accession:DOID:0110981 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2. (DO)
Synonyms:exact_synonym: JBTS10
 primary_id: MESH:C567582
 alt_id: OMIM:300804;   RDO:0015629


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Joubert syndrome 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO DNA:deletions:exon:c.2841_2847del, c.2767del (human)
DNA:duplication:exon:2122-2125dup (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Joubert syndrome 10		 OMIM
CTD
ClinVar
RGD		 PMID:16783569 PMID:18546297 PMID:19800048 PMID:22353940 PMID:23033313 More... RGD:11535963, RGD:11535965 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      ciliopathy 1024
        Joubert syndrome 415
          Joubert syndrome 10 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            ciliopathy 1024
              Joubert syndrome 415
                Joubert syndrome 10 1
paths to the root