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ONTOLOGY REPORT - ANNOTATIONS


Term:Joubert Syndrome 28
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Accession:DOID:0110997 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. (DO)
Synonyms:exact_synonym: JBTS28
 primary_id: OMIM:617121;   RDO:9001267
For additional species annotation, visit the Alliance of Genome Resources.


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Joubert Syndrome 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mks1 Meckel syndrome, type 1 JBrowse link 10 75,149,814 75,160,481 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 28 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 28 1
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