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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 39
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Accession:DOID:0110360 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41. (DO)
Synonyms:exact_synonym: RP39
 broad_synonym: USH2A-RELATED DISORDER
 primary_id: OMIM:613809;   RDO:9000497
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 39 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush2a usherin ISO ClinVar Annotator: match by OMIM:613809
ClinVar Annotator: match by term: Retinitis pigmentosa 39
OMIM
ClinVar
PMID:1968399 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10738000 PMID:10775529 PMID:10909849 PMID:11311042 PMID:11402400 PMID:12112664 PMID:12427073 PMID:12525556 PMID:14970843 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15326663 PMID:15671307 PMID:15823922 PMID:16098008 PMID:16199547 PMID:16963483 PMID:17085681 PMID:17296898 PMID:17405132 PMID:18273898 PMID:18281613 PMID:18452394 PMID:18463160 PMID:18641288 PMID:18665192 PMID:18665195 PMID:19023448 PMID:19129697 PMID:19683999 PMID:19737284 PMID:19788668 PMID:19881469 PMID:20052763 PMID:20145675 PMID:20301515 PMID:20497194 PMID:20507924 PMID:20513143 PMID:20591486 PMID:20596040 PMID:20613545 PMID:20801516 PMID:21151602 PMID:21569298 PMID:21593743 PMID:21686329 PMID:21738395 PMID:21909055 PMID:22004887 PMID:22135276 PMID:22334370 PMID:22563300 PMID:22581970 PMID:22681893 PMID:23591405 PMID:23737954 PMID:23755871 PMID:23767834 PMID:23924366 PMID:23940504 PMID:23991284 PMID:24033266 PMID:24088041 PMID:24154662 PMID:24160897 PMID:24265693 PMID:24498627 PMID:24516651 PMID:24603341 PMID:24607488 PMID:24625443 PMID:24853665 PMID:24875298 PMID:24901346 PMID:24938718 PMID:24944099 PMID:25078356 PMID:25097241 PMID:25133613 PMID:25211151 PMID:25252889 PMID:25261458 PMID:25262649 PMID:25324289 PMID:25326637 PMID:25333064 PMID:25342620 PMID:25356976 PMID:25375654 PMID:25404053 PMID:25412400 PMID:25425308 PMID:25472526 PMID:25521520 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25823529 PMID:25910913 PMID:25999674 PMID:26164827 PMID:26261414 PMID:26306921 PMID:26310143 PMID:26338283 PMID:26352687 PMID:26355662 PMID:26467025 PMID:26633545 PMID:26654877 PMID:26667666 PMID:26764160 PMID:26806561 PMID:26872967 PMID:26927203 PMID:26969326 PMID:27032803 PMID:27157150 PMID:27160483 PMID:27208204 PMID:27318125 PMID:27460420 PMID:27596865 PMID:27624628 PMID:27957503 PMID:28041643 PMID:28157192 PMID:28492532 PMID:28559085 PMID:28653555 PMID:28761320 PMID:28838317 PMID:28894305 PMID:28944237 PMID:28981474 PMID:29142287 PMID:29293505 PMID:29343940 PMID:29490346 PMID:29588463 PMID:29625443 PMID:29641573 PMID:29899460 PMID:29912909 PMID:29953849 PMID:29986705 PMID:30190494 PMID:30280194 PMID:30459346 PMID:30543658 PMID:30718709 PMID:30872814 PMID:30948794 PMID:31456290 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        fundus dystrophy 344
          retinitis pigmentosa 279
            retinitis pigmentosa 39 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            retinal disease 805
              retinal degeneration 478
                fundus dystrophy 344
                  retinitis pigmentosa 279
                    retinitis pigmentosa 39 1
paths to the root