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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
 xref: MESH:C567582;   MIM:300804;   MONDO:0010431


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Joubert syndrome 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Joubert syndrome 10 ClinVar PMID:25741868 NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		JBrowse link
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:12595504 PMID:16783569 PMID:18546297 PMID:19800048 PMID:22353940 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 19102
    syndrome 11271
      ciliopathy 1027
        Joubert syndrome 416
          Joubert syndrome 10 2
Path 2
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          monogenic disease 10822
            ciliopathy 1027
              Joubert syndrome 416
                Joubert syndrome 10 2
paths to the root