Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:retinal detachment
go back to main search page
Accession:DOID:5327 term browser browse the term
Definition:Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Retinal detachment occurs more commonly in men than in women, in eyes with degenerative myopia, in aging and in aphakia. It may occur after an uncomplicated cataract extraction, but it is seen more often if vitreous humor has been lost during surgery. (Dorland, 27th ed; Newell, Ophthalmology: Principles and Concepts, 7th ed, p310-12).
Synonyms:exact_synonym: Retinal Detachments;   Retinal Pigment Epithelial Detachment
 primary_id: MESH:D012163
 alt_id: MIM:180050
 xref: EFO:0005773;   ICD10CM:H33.2;   ICD9CM:361.9;   NCI:C26874
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
retinal detachment term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 IEP
ISO
protein:altered localization:photoreceptor,nucleus:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18497877 PMID:11290545 RGD:10047408 NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18497877 NCBI chr 7:27,381,392...27,466,772
Ensembl chr 7:25,494,609...25,579,540
JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:vitreous humor (human) RGD PMID:19081814 RGD:5685692 NCBI chr 8:55,435,779...55,438,160
Ensembl chr 8:46,539,082...46,541,469
JBrowse link
G Bnip3 BCL2 interacting protein 3 IEP RGD PMID:26093278 RGD:11561987 NCBI chr 1:203,137,778...203,154,962
Ensembl chr 1:193,708,167...193,725,359
JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18497877 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp8 caspase 8 treatment IEP RGD PMID:28633009 RGD:13782302 NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Casp9 caspase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18497877 Ensembl chr 5:154,109,046...154,126,626 JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:vitreous humor (human) RGD PMID:17284607 PMID:19139725 RGD:8548846, RGD:2316760 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Cfh complement factor H no_association
susceptibility
ISO DNA:missense mutation:cds:p.Y402H (rs1061170)
DNA:SNP, missense mutation:promoter, cds:g.-257C>T, p.I62V (rs3753394, rs800292)
RGD PMID:18515590 RGD:7411726 NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO DNA:missense mutation:cds:p.C192A (human)
ClinVar Annotator: match by term: Retinal detachment
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:8317498 PMID:22574936 RGD:8657349 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Retinal detachment ClinVar PMID:20301302 PMID:24273071 PMID:25741868 PMID:28492532 PMID:31090205 More... NCBI chr 3:188,089,337...188,112,034
Ensembl chr 3:167,711,840...167,734,465
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11389483 NCBI chr13:53,352,932...53,540,019
Ensembl chr13:50,800,959...50,989,261
JBrowse link
G Cryba1 crystallin, beta A1 IAGP RGD PMID:26303524 RGD:38676460 NCBI chr10:63,106,465...63,113,020
Ensembl chr10:62,608,383...62,614,726
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:23974951 RGD:8661680 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Epo erythropoietin treatment IDA
IEP
mRNA,protein:increased expression:retina: RGD PMID:22020175 PMID:17882708 RGD:10401069, RGD:11041648 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Epor erythropoietin receptor IEP mRNA,protein:increased expression:retina: RGD PMID:17882708 RGD:11041648 NCBI chr 8:28,765,738...28,770,371
Ensembl chr 8:20,489,678...20,494,257
JBrowse link
G Fas Fas cell surface death receptor treatment IEP
IMP
mRNA, protein:increased expression:retina RGD PMID:15557468 PMID:17923548 RGD:1600357, RGD:8662409 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 IEP mRNA,protein:increased expression:layer of retina: RGD PMID:10670490 RGD:10402077 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:vitreous:
associated with Retinal vein occlusion;protein:increased expression:aqueous humor,vitreous fluid:
RGD PMID:1800167 PMID:21978265 RGD:7829748, RGD:7829821 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Jak2 Janus kinase 2 IDA protein:increased tyrosine phosphorylation:retina RGD PMID:22251399 RGD:10411890 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha IEP RGD PMID:26093278 RGD:11561987 NCBI chr 3:164,243,204...164,244,850
Ensembl chr 3:143,783,024...143,784,670
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Retinal detachment ClinVar PMID:25741868 NCBI chr  X:8,379,569...8,404,019
Ensembl chr  X:5,796,487...5,820,934
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 IEP protein:increased expression:retina RGD PMID:18097183 RGD:5684405 NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:173,236,963...173,253,770
JBrowse link
G Prkcq protein kinase C, theta ISO
ISS
CTD Direct Evidence: marker/mechanism CTD
MouseDO
PMID:26978024 NCBI chr17:72,156,215...72,288,508
Ensembl chr17:67,246,394...67,378,704
JBrowse link
G Tnf tumor necrosis factor treatment IDA
ISO
RGD PMID:21402953 PMID:21402953 RGD:5131257, RGD:5131257 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO RGD PMID:21402953 RGD:5131257 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:21402953 RGD:5131257 NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206
JBrowse link
Knobloch Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 ISO ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:21862674 PMID:23667181 PMID:28492532 NCBI chr19:58,596,095...58,749,239
Ensembl chr19:41,688,617...41,839,781
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Knobloch syndrome
CTD
ClinVar
PMID:1554013 PMID:9536098 PMID:10942434 PMID:12415512 PMID:14695535 More... NCBI chr20:11,473,645...11,582,111
Ensembl chr20:11,474,104...11,582,593
JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:9677068 PMID:14695535 PMID:33693784 NCBI chr11:82,212,896...82,273,803
Ensembl chr11:68,707,969...68,768,816
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Knobloch syndrome ClinVar PMID:1554013 PMID:9536098 PMID:12415512 PMID:14695535 PMID:17546652 More... NCBI chr20:11,583,928...11,601,959
Ensembl chr20:11,584,411...11,601,972
JBrowse link
Knobloch Syndrome Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:12415512 PMID:12766032 PMID:14695535 PMID:16199547 More... NCBI chr20:11,473,645...11,582,111
Ensembl chr20:11,474,104...11,582,593
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1 ClinVar PMID:12415512 PMID:17546652 PMID:19160445 PMID:19390655 PMID:20799329 More... NCBI chr20:11,583,928...11,601,959
Ensembl chr20:11,584,411...11,601,972
JBrowse link
Knobloch Syndrome Type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pak2 p21 (RAC1) activated kinase 2 ISO ClinVar Annotator: match by term: Knobloch syndrome 2 OMIM
ClinVar
PMID:25741868 PMID:33693784 PMID:37808560 PMID:38712026 PMID:38894571 NCBI chr11:82,212,896...82,273,803
Ensembl chr11:68,707,969...68,768,816
JBrowse link
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh7 atonal bHLH transcription factor 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ATOH7-related condition | ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive
OMIM
CTD
ClinVar
PMID:9677055 PMID:11527934 PMID:21441919 PMID:21474777 PMID:22068589 More... NCBI chr20:25,529,528...25,529,977
Ensembl chr20:25,530,826...25,531,275
JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive ClinVar PMID:25250762 PMID:25741868 NCBI chr 4:51,279,562...51,355,030
Ensembl chr 4:50,313,772...50,389,246
JBrowse link
Rhegmatogenous Retinal Detachment, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO DNA:missense mutation:exon:p.G318R (human)
ClinVar Annotator: match by term: Autosomal dominant rhegmatogenous retinal detachment
ClinVar
RGD
PMID:7695699 PMID:8218237 PMID:9016532 PMID:10982970 PMID:12544472 More... RGD:8657388 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
Spondyloocular Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xylt2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Spondylo-ocular syndrome | ClinVar Annotator: match by term: Spondyloocular syndrome, autosomal recessive | ClinVar Annotator: match by term: XYLT2-related condition OMIM
ClinVar
PMID:16571645 PMID:25741868 PMID:26027496 PMID:26987875 PMID:28492532 More... NCBI chr10:80,102,776...80,116,346
Ensembl chr10:79,606,007...79,619,391
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    sensory system disease 7373
      eye disease 3724
        retinal disease 1461
          retinal detachment 36
            Diverticulosis of Bowel, Hernia, and Retinal Detachment 0
            Knobloch Syndrome + 4
            Lattice Degeneration of Retina Leading to Retinal Detachment 0
            Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 2
            Rhegmatogenous Retinal Detachment, Autosomal Dominant 1
            Spondyloocular Syndrome, Autosomal Recessive 1
            retinal perforation + 0
Path 2
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      nervous system disease 14362
        Neurologic Manifestations 10451
          sensory system disease 7373
            eye disease 3724
              retinal disease 1461
                retinal detachment 36
                  Diverticulosis of Bowel, Hernia, and Retinal Detachment 0
                  Knobloch Syndrome + 4
                  Lattice Degeneration of Retina Leading to Retinal Detachment 0
                  Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 2
                  Rhegmatogenous Retinal Detachment, Autosomal Dominant 1
                  Spondyloocular Syndrome, Autosomal Recessive 1
                  retinal perforation + 0
paths to the root