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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 28
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Accession:DOID:0110997 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. (DO)
Synonyms:exact_synonym: JBTS28
 primary_id: OMIM:617121;   RDO:9001267
For additional species annotation, visit the Alliance of Genome Resources.


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Joubert Syndrome 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by OMIM:617121
ClinVar Annotator: match by term: Joubert syndrome 28
ClinVar
OMIM
PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17935508 PMID:23351400 PMID:24886560 PMID:25741868 PMID:26092869 PMID:26490104 PMID:27377014 PMID:27570071 PMID:28492532 PMID:30311386 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      ciliopathy 238
        Joubert syndrome 79
          Joubert Syndrome 28 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              developmental disorder of mental health 3187
                specific developmental disorder 2367
                  intellectual disability 2190
                    Joubert Syndrome 28 1
paths to the root