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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 14
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Accession:DOID:0110983 term browser browse the term
Definition:A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33. (DO)
Synonyms:exact_synonym: JBTS14
 primary_id: OMIM:614424;   RDO:9000485
For additional species annotation, visit the Alliance of Genome Resources.


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Joubert syndrome 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:28492532 NCBI chr 9:65,817,039...65,879,564
Ensembl chr 9:65,833,460...65,879,521
JBrowse link
G Mpp4 membrane palmitoylated protein 4 ISO ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:28492532 NCBI chr 9:65,917,917...65,961,274
Ensembl chr 9:65,917,917...65,957,101
JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Joubert syndrome 14
ClinVar Annotator: match by OMIM:614424
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:14760273 PMID:17603801 PMID:22152675 PMID:22981120 PMID:25741868 PMID:26092869 PMID:26673778 PMID:28492532 NCBI chr 9:65,882,063...65,917,424
Ensembl chr 9:65,882,054...65,917,132
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      ciliopathy 237
        Joubert syndrome 78
          Joubert syndrome 14 3
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              developmental disorder of mental health 3114
                specific developmental disorder 2316
                  intellectual disability 2163
                    Joubert syndrome 14 3
paths to the root