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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
 alt_id: OMIM:611560
 xref: NCI:C159653



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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 chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
JBrowse link
G Rpgrip1l Rpgrip1-like ISO
ISS
DNA:missense mutations, splice-site mutation:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
OMIM:611560
ClinVar Annotator: match by term: Joubert syndrome 7
OMIM
CTD
MouseDO
ClinVar
RGD
PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... RGD:11537350 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    sensory system disease 6932
      eye disease 3466
        ocular motility disease 239
          Joubert syndrome 7 3
Path 2
Term Annotations click to browse term
  disease 21121
    disease of anatomical entity 18204
      nervous system disease 14045
        central nervous system disease 12381
          brain disease 11618
            disease of mental health 8282
              developmental disorder of mental health 5519
                specific developmental disorder 4478
                  intellectual disability 4269
                    Joubert syndrome 7 3
paths to the root