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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:7240710
RGD:8554872
RGD:11537350

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      ciliopathy 216
        Joubert syndrome 66
          Joubert syndrome 7 2
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        central nervous system disease 8844
          brain disease 8133
            disease of mental health 5763
              developmental disorder of mental health 2915
                specific developmental disorder 2082
                  intellectual disability 1923
                    Joubert syndrome 7 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.