ONTOLOGY REPORT - ANNOTATIONS


Term:Joubert syndrome 15
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Accession:DOID:0110984 term browser browse the term
Definition:A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. (DO)
Synonyms:exact_synonym: JBTS15
 narrow_synonym: JOUBERT SYNDROME 12/15, DIGENIC;   JOUBERT SYNDROME 9/15, DIGENIC
 primary_id: OMIM:614464
 alt_id: RDO:9000486
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Joubert syndrome 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14926
    syndrome 4715
      ciliopathy 193
        Joubert syndrome 60
          Joubert syndrome 15 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        central nervous system disease 6950
          brain disease 6456
            disease of mental health 4348
              developmental disorder of mental health 2603
                specific developmental disorder 1767
                  intellectual disability 1596
                    Joubert syndrome 15 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.