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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:300804
DNA:deletions:exon:c.2841_2847del, c.2767del (human)
DNA:duplication:exon:2122-2125dup (human)
ClinVar Annotator: match by term: Joubert syndrome 10
OMIM
ClinVar
PMID:18546297, PMID:19800048, PMID:22353940, PMID:24884629, PMID:25741868, PMID:26092869, PMID:28492532, PMID:19800048, PMID:16783569 RGD:11535963, RGD:11535965 NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
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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 10 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 10 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.