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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
For additional species annotation, visit the Alliance of Genome Resources.


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: Retinitis pigmentosa 7, digenic
ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS 18
ClinVar Annotator: match by OMIM:608133
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1684223, PMID:7880786, PMID:8019570, PMID:8020945, PMID:8111389, PMID:8202715, PMID:9443872, PMID:11297544, PMID:12925772, PMID:23847139, PMID:25447119, PMID:25741868, PMID:28076437, PMID:28492532, PMID:28559085, PMID:29555955 NCBI chr 9:16,085,933...16,386,176 JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic OMIM
ClinVar
PMID:7904211, PMID:8202715, PMID:16799052, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:225,126,732...225,128,740
Ensembl chr 1:225,126,734...225,128,740
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      eye disease 2652
        Hereditary Eye Diseases 576
          retinitis pigmentosa 266
            retinitis pigmentosa 7 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            retinal disease 780
              retinal degeneration 466
                fundus dystrophy 333
                  retinitis pigmentosa 266
                    retinitis pigmentosa 7 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.