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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 7
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Accession:DOID:0111002 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2. (DO)
Synonyms:exact_synonym: JBTS7
 primary_id: MESH:C566916;   RDO:0015129
 alt_id: OMIM:611560
For additional species annotation, visit the Alliance of Genome Resources.


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Joubert syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar PMID:19936001 PMID:25741868 PMID:28492532 NCBI chr14:6,602,004...6,645,257
Ensembl chr14:6,602,004...6,645,257
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by OMIM:611560
DNA:missense mutations, splice-site mutation:exon, intron:multiple
ClinVar Annotator: match by term: Joubert syndrome 7
OMIM
ClinVar
PMID:17558407 PMID:17558409 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:19574260 PMID:21866095 PMID:23188109 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:29343940 PMID:29991045 PMID:30311386, PMID:17960139 RGD:11537350 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      ciliopathy 238
        Joubert syndrome 79
          Joubert syndrome 7 3
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 7 3
paths to the root