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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 3
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Accession:DOID:0110414 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11. (DO)
Synonyms:exact_synonym: Choroidoretinal Degeneration with Retinal Reflex in Heterozygous Women;   Cone-Rod Degeneration, X-Linked;   Progressive retinal atrophy, X-linked, type 1;   Progressive retinal atrophy, X-linked, type 2;   RP15;   RP3;   Retinitis Pigmentosa 15
 primary_id: MESH:C564520;   RDO:0013458
 alt_id: OMIA:000831;   OMIA:001518;   OMIM:300029
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
retinitis pigmentosa 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:46,553,745...46,680,769
NCBI chr  X:46,701,342...46,767,826
JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:14,633,342...14,642,356
Ensembl chr  X:14,633,342...14,642,424
JBrowse link
G Hypm huntingtin interacting protein M ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:13,989,401...13,989,955
Ensembl chr  X:13,989,401...13,989,955
JBrowse link
G Iqcb1 IQ motif containing B1 severity ISO RGD PMID:22183348, PMID:21857984 RGD:11352374, RGD:11537386 NCBI chr11:66,824,059...66,878,585
Ensembl chr11:66,824,065...66,878,551
JBrowse link
G Lancl3 LanC like 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:14,358,224...14,490,340
Ensembl chr  X:14,358,224...14,490,340
JBrowse link
G LOC691895 similar to ferritin, heavy polypeptide-like 17 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:14,782,958...14,783,792
Ensembl chr  X:14,782,958...14,783,792
JBrowse link
G Mageb16 MAGE family member B16 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:46,977,655...47,026,377
Ensembl chr  X:46,977,655...47,078,128
JBrowse link
G Otc ornithine carbamoyltransferase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Prrg1 proline rich and Gla domain 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:45,698,240...45,806,238
Ensembl chr  X:45,698,237...45,806,198
JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar PMID:20625056, PMID:23150612, PMID:28492532, PMID:28714225 NCBI chr  X:2,066,298...2,116,661
Ensembl chr  X:2,064,486...2,116,656
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15
ClinVar Annotator: match by OMIM:300029
DNA:mutations:multiple (human)
DNA:deletion, nonsense mutation:exons:c.1536delC, p.E332X (human)
DNA:frameshift mutation:exon:c.2919delA (human)
DNA:duplication:exon:?-?+32dup (mouse)
DNA:transversion:intron:IVS5+1G>T (human)
DNA:missense mutation:exon:p.G60V (human)
DNA:nonsense mutation:exon:p.G52X (human)
DNA:deletion:exon:g.48061-48064delAAGT (human)
DNA:deletions:exon:p.E746RfsX768, p.E802GfsX833, p.T801TfsX813 (human)
OMIM
ClinVar
PMID:7611300, PMID:8673101, PMID:8817343, PMID:9326322, PMID:9399904, PMID:9488274, PMID:9855162, PMID:10401007, PMID:10482958, PMID:10932196, PMID:10937588, PMID:10970770, PMID:11754050, PMID:11754051, PMID:11857109, PMID:11875055, PMID:11992260, PMID:16387007, PMID:17195164, PMID:17405150, PMID:17480003, PMID:20631154, PMID:25741868, PMID:25741869, PMID:26143542, PMID:28492532, PMID:18361418, PMID:12123547, PMID:17893654, PMID:22563472, PMID:10725384, PMID:10094550, PMID:9855162, PMID:9331262, PMID:12859409, PMID:20021257 RGD:8553229, RGD:8553196, RGD:8553198, RGD:8553202, RGD:8553204, RGD:8553206, RGD:8553208, RGD:8553210, RGD:8553228, RGD:8553233 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
G Rpgrip1l Rpgrip1-like severity ISO DNA:polymorphism:cds:p.R744Q (rs2302677)(human) RGD PMID:22183348 RGD:11352374 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Srpx sushi-repeat-containing protein, X-linked ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:14,146,618...14,220,756
Ensembl chr  X:14,150,038...14,220,662
JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:13,857,669...14,109,592
Ensembl chr  X:14,019,961...14,109,568
JBrowse link
G Tspan7 tetraspanin 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:13,261,551...13,282,886
Ensembl chr  X:13,261,558...13,279,099
JBrowse link
G Xk X-linked Kx blood group ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:14,497,376...14,534,479
Ensembl chr  X:14,498,119...14,534,473
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      eye disease 2652
        fundus dystrophy 333
          retinitis pigmentosa 266
            retinitis pigmentosa 3 17
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      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 3 17
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.