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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 4
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Accession:DOID:0110372 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22. (DO)
Synonyms:exact_synonym: RP4;   rhodopsin-related retinitis pigmentosa
 narrow_synonym: retinitis pigmentosa 4, autosomal recessive
 primary_id: MESH:C566706
 alt_id: OMIM:613731
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rho rhodopsin ISO ClinVar Annotator: match by OMIM:613731
ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 4, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Retinitis pigmentosa 4, autosomal recessive
OMIM
ClinVar
PMID:1301135 PMID:1302614 PMID:1303237 PMID:1356370 PMID:1418997 PMID:1484692 PMID:1539595 PMID:1580841 PMID:1765377 PMID:1783387 PMID:1808803 PMID:1833777 PMID:1840561 PMID:1862076 PMID:1882937 PMID:1897520 PMID:1924344 PMID:1929926 PMID:1985460 PMID:1987955 PMID:1987956 PMID:2137202 PMID:2215617 PMID:2239971 PMID:2333895 PMID:2613244 PMID:7523628 PMID:7724183 PMID:7981701 PMID:7987331 PMID:7987385 PMID:8045708 PMID:8081400 PMID:8088850 PMID:8240107 PMID:8253795 PMID:8317502 PMID:8328469 PMID:8353500 PMID:8401533 PMID:8406457 PMID:8554077 PMID:8841304 PMID:8905849 PMID:8943080 PMID:9197578 PMID:9380676 PMID:9483582 PMID:9724753 PMID:9810568 PMID:10967073 PMID:10980774 PMID:11094174 PMID:11139241 PMID:11879142 PMID:11910130 PMID:12091393 PMID:12660238 PMID:12871954 PMID:14769795 PMID:15509574 PMID:16170112 PMID:16737970 PMID:16767206 PMID:17488458 PMID:18175313 PMID:19085385 PMID:19913029 PMID:19960070 PMID:20555336 PMID:20832389 PMID:21094163 PMID:21174529 PMID:21217109 PMID:21219898 PMID:21352497 PMID:21357407 PMID:21677794 PMID:22252712 PMID:22321012 PMID:22323724 PMID:23221340 PMID:23591405 PMID:23625926 PMID:24265693 PMID:24520188 PMID:24853414 PMID:24935155 PMID:24938718 PMID:25096327 PMID:25097241 PMID:25101269 PMID:25221422 PMID:25408095 PMID:25741868 PMID:25741869 PMID:25999674 PMID:26887858 PMID:26962691 PMID:27624628 PMID:28041643 PMID:28076437 PMID:28492532 PMID:28559085 PMID:28981474 PMID:29068140 PMID:29847639 PMID:30240733 PMID:30311386 PMID:30718709 PMID:31100078 NCBI chr 4:147,832,136...147,837,298
Ensembl chr 4:147,832,136...147,837,298
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      eye disease 2714
        Hereditary Eye Diseases 582
          retinitis pigmentosa 270
            retinitis pigmentosa 4 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          eye disease 2714
            retinal disease 786
              retinal degeneration 470
                fundus dystrophy 339
                  retinitis pigmentosa 270
                    retinitis pigmentosa 4 1
paths to the root