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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
 broad_synonym: CPLANE1-RELATED CONDITION
 xref: MIM:614615;   MONDO:0013824;   NCI:C175702


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Joubert Syndrome 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: Joubert syndrome 17 ClinVar PMID:18319074 PMID:19440741 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 1:202,398,986...202,446,255
Ensembl chr 1:207,390,883...207,436,008 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: CPLANE1-related condition | ClinVar Annotator: match by term: Joubert syndrome 17 OMIM
ClinVar		 PMID:9536098 PMID:10488899 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 5:73,122,305...73,265,343
Ensembl chr 5:78,402,466...78,544,807 		JBrowse link
G LOC100978046 gamma-crystallin D ISO ClinVar Annotator: match by term: Joubert syndrome 17 ClinVar PMID:19390652 PMID:22995991 PMID:25741868 PMID:28492532 NCBI chr2B:95,352,149...95,356,237
Ensembl chr2B:213,476,336...213,479,279 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Joubert syndrome 17 ClinVar PMID:7695243 PMID:9266738 PMID:18046642 PMID:20981092 PMID:25741868 More... NCBI chr17:58,034,146...58,066,644
Ensembl chr17:63,128,550...63,161,043 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15838
    syndrome 10733
      ciliopathy 1033
        Joubert syndrome 417
          Joubert Syndrome 17 4
Path 2
Term Annotations click to browse term
  disease 15838
    Developmental Disease 13862
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12952
        genetic disease 12652
          monogenic disease 10862
            ciliopathy 1033
              Joubert syndrome 417
                Joubert Syndrome 17 4
paths to the root