Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Joubert Syndrome 27
go back to main search page
Accession:DOID:0110996 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11. (DO)
Synonyms:exact_synonym: JBTS27
 primary_id: OMIM:617120;   RDO:9001266
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Joubert Syndrome 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      ciliopathy 200
        Joubert syndrome 52
          Joubert Syndrome 27 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        central nervous system disease 8136
          brain disease 7608
            disease of mental health 5547
              developmental disorder of mental health 2725
                specific developmental disorder 1893
                  intellectual disability 1718
                    Joubert Syndrome 27 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.