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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 23
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Accession:DOID:0110992 term browser browse the term
Definition:A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. (DO)
Synonyms:exact_synonym: JBTS23
 broad_synonym: KIAA0586-RELATED CONDITION
 primary_id: MIM:616490


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Joubert syndrome 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID4A AT-rich interaction domain 4A IAGP ClinVar Annotator: match by term: Joubert syndrome 23 ClinVar PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 NCBI chr14:58,298,555...58,373,876
Ensembl chr14:58,298,504...58,373,887 		JBrowse link
G KIAA0586 KIAA0586 IAGP ClinVar Annotator: match by term: Joubert syndrome 23 ClinVar
OMIM		 PMID:2080096 PMID:2609613 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G PSMA3 proteasome 20S subunit alpha 3 IAGP ClinVar Annotator: match by term: Joubert syndrome 23 ClinVar PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 NCBI chr14:58,244,843...58,272,004
Ensembl chr14:58,244,843...58,272,012 		JBrowse link
G TIMM9 translocase of inner mitochondrial membrane 9 IAGP ClinVar Annotator: match by term: Joubert syndrome 23 ClinVar PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 NCBI chr14:58,408,494...58,427,531
Ensembl chr14:58,408,495...58,427,531 		JBrowse link
G TOMM20L translocase of outer mitochondrial membrane 20 like IAGP ClinVar Annotator: match by term: Joubert syndrome 23 ClinVar PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 NCBI chr14:58,395,930...58,417,080
Ensembl chr14:58,395,928...58,408,702 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97543
    syndrome 29783
      ciliopathy 1365
        Joubert syndrome 491
          Joubert syndrome 23 5
Path 2
Term Annotations click to browse term
  disease 97543
    Developmental Disease 35157
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 28638
        genetic disease 27133
          monogenic disease 19836
            ciliopathy 1365
              Joubert syndrome 491
                Joubert syndrome 23 5
paths to the root