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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 15603
    syndrome 5215
      ciliopathy 200
        Joubert syndrome 52
          Joubert syndrome 4 3
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        sensory system disease 4697
          eye and adnexa disease 2259
            eye disease 2259
              retinal disease 715
                retinal degeneration 406
                  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.