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
Accession: DOID:5327
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 .
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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
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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
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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
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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
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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
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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
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Casp9
caspase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18497877
Ensembl chr 5:154,109,046...154,126,626
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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
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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
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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
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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 PMID:32483926 PMID:33633367 More...
NCBI chr 3:188,089,337...188,112,034
Ensembl chr 3:167,711,840...167,734,465
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:16199547 PMID:17546652 PMID:17576681 PMID:17975799 PMID:19160445 PMID:19390655 PMID:20799329 PMID:20979194 PMID:21862674 PMID:21937992 PMID:23667181 PMID:24033266 PMID:25456301 PMID:25741868 PMID:26467025 PMID:27259167 PMID:28041643 PMID:28144890 PMID:28492532 PMID:29977801 PMID:30007336 PMID:31415705 PMID:32581362 PMID:32860008 PMID:34828430 More...
NCBI chr20:11,473,645...11,582,111
Ensembl chr20:11,474,104...11,582,593
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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
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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 PMID:17576681 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 PMID:23667181 PMID:24033266 PMID:25456301 PMID:25741868 PMID:26467025 PMID:28041643 PMID:28492532 PMID:29977801 PMID:32860008 PMID:34828430 More...
NCBI chr20:11,583,928...11,601,959
Ensembl chr20:11,584,411...11,601,972
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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 PMID:17546652 PMID:17576681 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 PMID:23040494 PMID:23667181 PMID:24507774 PMID:25024173 PMID:25456301 PMID:25741868 PMID:26467025 PMID:27259167 PMID:28041643 PMID:28144890 PMID:28492532 PMID:29977801 PMID:31415705 PMID:31623504 PMID:33238767 PMID:34828430 PMID:35387550 More...
NCBI chr20:11,473,645...11,582,111
Ensembl chr20:11,474,104...11,582,593
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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 PMID:21862674 PMID:23667181 PMID:25456301 PMID:25741868 PMID:26467025 PMID:28041643 PMID:28492532 PMID:29977801 PMID:31623504 PMID:34828430 More...
NCBI chr20:11,583,928...11,601,959
Ensembl chr20:11,584,411...11,601,972
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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
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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 PMID:22645276 PMID:25741868 PMID:28492532 More...
NCBI chr20:25,529,528...25,529,977
Ensembl chr20:25,530,826...25,531,275
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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
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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 PMID:12939326 PMID:15671297 PMID:17078022 PMID:19344236 PMID:20179744 PMID:20301479 PMID:25741868 PMID:28492532 PMID:30181686 PMID:32639332 PMID:37601772 PMID:15671297 More...
RGD:8657388
NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546
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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 PMID:30496831 More...
NCBI chr10:80,102,776...80,116,346
Ensembl chr10:79,606,007...79,619,391
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
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
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