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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 21
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Accession:DOID:0110990 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13. (DO)
Synonyms:exact_synonym: JBTS21
 primary_id: OMIM:615636;   RDO:9001022
For additional species annotation, visit the Alliance of Genome Resources.


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Joubert syndrome 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:24360807, PMID:24360808, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr 5:8,666,046...8,760,458
Ensembl chr 5:8,666,200...8,760,458
JBrowse link
G Cops5 COP9 signalosome subunit 5 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 5:8,876,090...8,894,345
Ensembl chr 5:8,876,044...8,894,339
JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 21
ClinVar Annotator: match by OMIM:615636
OMIM
ClinVar
PMID:24033266, PMID:24360803, PMID:24360807, PMID:24360808, PMID:25558065, PMID:25741868, PMID:26092869, PMID:27894351, PMID:28492532, PMID:29706646, PMID:30311386 NCBI chr 5:8,761,293...8,876,205
Ensembl chr 5:8,761,293...8,864,578
JBrowse link
G Ppp1r42 protein phosphatase 1, regulatory subunit 42 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 5:8,911,356...8,956,313
Ensembl chr 5:8,916,633...8,956,119
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      ciliopathy 227
        Joubert syndrome 70
          Joubert syndrome 21 4
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 21 4
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.