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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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;   retinitis pigmentosa 7 with Bull's-eye maculopathy;   retinitis pigmentosa 7, digenic
 narrow_synonym: LCA18;   Leber congenital amaurosis 18
 primary_id: OMIM:608133
 alt_id: MESH:C564284;   MESH:C567263;   MESH:C567264


show annotations for term's descendants           Sort by:
retinitis pigmentosa 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRPH2 peripherin 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 18 | ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic OMIM
ClinVar		 PMID:1684223 PMID:7493155 PMID:7825692 PMID:7880786 PMID:7904791 More... NCBI chr12:11,299,236...11,316,175
Ensembl chr12:11,299,236...11,316,175 		JBrowse link
G ROM1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic OMIM
ClinVar		 PMID:7904211 PMID:8202715 PMID:16799052 PMID:25741868 PMID:28492532 NCBI chr18:54,025,603...54,027,803
Ensembl chr18:54,025,606...54,027,375 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15615
    physical disorder 4894
      Leber congenital amaurosis 131
        retinitis pigmentosa 7 2
Path 2
Term Annotations click to browse term
  disease 15615
    disease of anatomical entity 15198
      nervous system disease 13267
        Neurologic Manifestations 9636
          sensory system disease 6673
            eye disease 3382
              retinal disease 1192
                retinal degeneration 836
                  fundus dystrophy 702
                    retinitis pigmentosa 603
                      retinitis pigmentosa 7 2
paths to the root