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ONTOLOGY REPORT - ANNOTATIONS


Term:Joubert Syndrome 27
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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.


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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:13592920
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      ciliopathy 191
        Joubert syndrome 58
          Joubert Syndrome 27 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    Joubert Syndrome 27 1
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