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ONTOLOGY REPORT - ANNOTATIONS


Term:retinitis pigmentosa 7
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Accession:DOID:0110383 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: RP7
 narrow_synonym: LCA18;   LEBER CONGENITAL AMAUROSIS 18;   RETINITIS PIGMENTOSA 7, DIGENIC
 primary_id: OMIM:608133
 alt_id: DOID:9009006;   MESH:C564284;   MESH:C567263;   RDO:0013303;   RDO:0015383
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:7240710
RGD:8554872
G Rom1 retinal outer segment membrane protein 1 JBrowse link 1 225,126,732 225,128,740 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    sensory system disease 4681
      eye and adnexa disease 2253
        eye disease 2253
          fundus dystrophy 265
            retinitis pigmentosa 242
              retinitis pigmentosa 7 2
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          eye and adnexa disease 2253
            eye disease 2253
              retinal disease 716
                retinal degeneration 408
                  fundus dystrophy 265
                    retinitis pigmentosa 242
                      retinitis pigmentosa 7 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.