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ONTOLOGY REPORT - ANNOTATIONS


Term:retinitis pigmentosa 73
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Accession:DOID:0110389 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the HGSNAT gene on chromosome 8p11. (DO)
Synonyms:exact_synonym: RP73
 primary_id: OMIM:616544
 alt_id: RDO:9001178
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 73 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase JBrowse link 16 70,876,557 70,909,443 RGD:7240710
RGD:8554872
G Pomk protein-O-mannose kinase JBrowse link 16 70,854,825 70,869,653 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    sensory system disease 4663
      eye and adnexa disease 2238
        eye disease 2238
          Hereditary Eye Diseases 505
            retinitis pigmentosa 240
              retinitis pigmentosa 73 2
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        sensory system disease 4663
          eye and adnexa disease 2238
            eye disease 2238
              retinal disease 716
                retinal degeneration 406
                  fundus dystrophy 262
                    retinitis pigmentosa 240
                      retinitis pigmentosa 73 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.