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ONTOLOGY REPORT - ANNOTATIONS


Term:Joubert syndrome 4
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Accession:DOID:0110999 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13. (DO)
Synonyms:exact_synonym: JBTS4
 primary_id: MESH:C536296
 alt_id: OMIM:609583;   RDO:0001822
 xref: GARD:10169
For additional species annotation, visit the Alliance of Genome Resources.


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Joubert syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:7246903
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:7240710
RGD:8554872
RGD:7246903
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:11068164

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15849
    syndrome 6057
      ciliopathy 216
        Joubert syndrome 66
          Joubert syndrome 4 3
Path 2
Term Annotations click to browse term
  disease 15849
    Developmental Diseases 9271
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8086
        genetic disease 7599
          monogenic disease 5250
            ciliopathy 216
              Joubert syndrome 66
                Joubert syndrome 4 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.