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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 17
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Accession:DOID:0110986 term browser browse the term
Definition:A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. (DO)
Synonyms:exact_synonym: JBTS17
 primary_id: OMIM:614615;   RDO:9000488
For additional species annotation, visit the Alliance of Genome Resources.


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Joubert Syndrome 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by OMIM:614615
DNA:missense mutation: :p.S235P (mouse)
ClinVar Annotator: match by term: Joubert syndrome 17
OMIM
ClinVar
PMID:10488899, PMID:18414213, PMID:22425360, PMID:23523602, PMID:24091540, PMID:24178751, PMID:25407461, PMID:25558065, PMID:25741868, PMID:25877302, PMID:25920555, PMID:26092869, PMID:26096313, PMID:27081551, PMID:27158779, PMID:27166760, PMID:27434533, PMID:28125082, PMID:28289185, PMID:28431631, PMID:28454995, PMID:28492532, PMID:29321670, PMID:29605658, PMID:30311386, PMID:25877302 RGD:11537349 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
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 17 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 17 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.