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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: Progressive retinal atrophy, X-linked, type 1;   Progressive retinal atrophy, X-linked, type 2;   RP15;   RP3;   X-linked cone-rod degeneration;   choroidoretinal degeneration with retinal reflex in heterozygous women;   retinitis pigmentosa 15
 primary_id: MESH:C564520
 alt_id: OMIA:000831;   OMIA:001518;   OMIM:300029
 xref: GARD:10381;   MONDO:0010227



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 3 ClinVar NCBI chr  X:43,264,687...43,616,607
Ensembl chr  X:43,263,490...43,616,852
JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:13,358,101...13,392,570
Ensembl chr  X:13,359,430...13,392,586
JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:13,327,933...13,337,139
Ensembl chr  X:13,327,892...13,337,139
JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:12,907,962...12,908,516 JBrowse link
G Iqcb1 IQ motif containing B1 severity ISO RGD PMID:22183348 PMID:21857984 RGD:11352374, RGD:11537386 NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
JBrowse link
G Lancl3 LanC like family member 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:13,478,499...13,609,934
Ensembl chr  X:13,480,311...13,609,678
JBrowse link
G Mageb16 MAGE family member B16 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:43,693,205...43,725,664
Ensembl chr  X:43,693,211...43,725,657
JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918
JBrowse link
G Prrg1 proline rich and Gla domain 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:42,494,256...42,606,612
Ensembl chr  X:42,494,256...42,606,588
JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar PMID:9536098 PMID:17576681 PMID:20625056 PMID:23150612 PMID:25741868 More... NCBI chr  X:1,872,582...1,916,704
Ensembl chr  X:1,873,306...1,916,688
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO
ISS
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)
ClinVar Annotator: match by term: Retinitis pigmentosa 3
CTD Direct Evidence: marker/mechanism
OMIM:300029
OMIM
ClinVar
CTD
MouseDO
RGD
PMID:7611300 PMID:8673101 PMID:8817343 PMID:9326322 PMID:9399904 More... RGD:8553229, RGD:8553196, RGD:8553198, RGD:8553202, RGD:8553204, RGD:8553206, RGD:8553208, RGD:8553210, RGD:8553228, RGD:8553233 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G Rpgrip1l Rpgrip1-like severity ISO DNA:polymorphism:cds:p.R744Q (rs2302677)(human) RGD PMID:22183348 RGD:11352374 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
G Srpx sushi-repeat-containing protein, X-linked ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:12,676,984...12,751,296
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:12,775,529...13,030,134
Ensembl chr  X:12,788,698...13,030,175
JBrowse link
G Tspan7 tetraspanin 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:12,208,783...12,306,092
Ensembl chr  X:12,208,783...12,306,131
JBrowse link
G Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:13,436,412...13,472,830
Ensembl chr  X:13,436,418...13,472,830
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21140
    sensory system disease 6891
      eye disease 3449
        fundus dystrophy 700
          retinitis pigmentosa 604
            retinitis pigmentosa 3 16
Path 2
Term Annotations click to browse term
  disease 21140
    disease of anatomical entity 18187
      nervous system disease 14017
        Neurologic Manifestations 9994
          sensory system disease 6891
            eye disease 3449
              eye degenerative disease 849
                retinal degeneration 847
                  fundus dystrophy 700
                    retinitis pigmentosa 604
                      retinitis pigmentosa 3 16
paths to the root