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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:retinal detachment
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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;   RDO:0002999
 xref: ICD10CM:H33.2;   ICD9CM:361.9;   NCI:C26874
For additional species annotation, visit the Alliance of Genome Resources.

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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 PMID:18497877, PMID:11290545 RGD:10047408 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087 		JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18497877 NCBI chr 7:31,699,309...31,784,192
Ensembl chr 7:31,699,885...31,784,192 		JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:vitreous humor (human) RGD PMID:19081814 RGD:5685692 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376 		JBrowse link
G Bnip3 BCL2 interacting protein 3 IEP RGD PMID:26093278 RGD:11561987 NCBI chr 1:211,248,098...211,265,282
Ensembl chr 1:211,248,098...211,265,282 		JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18497877 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204 		JBrowse link
G Casp8 caspase 8 treatment IEP RGD PMID:28633009 RGD:13782302 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106 		JBrowse link
G Casp9 caspase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18497877 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778 		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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870 		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 chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622 		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		 PMID:8317498, PMID:22574936 RGD:8657349 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997 		JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Retinal detachment ClinVar PMID:25741868 NCBI chr 3:176,102,287...176,124,839
Ensembl chr 3:176,102,351...176,124,306 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11389483 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834 		JBrowse link
G Cryba1 crystallin, beta A1 IAGP RGD PMID:26303524 RGD:38676460 NCBI chr10:65,160,777...65,167,504
Ensembl chr10:65,161,152...65,167,494 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:23974951 RGD:8661680 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324 		JBrowse link
G Epo erythropoietin treatment IDA
IEP		 mRNA,protein:increased expression:retina: RGD PMID:22020175, PMID:17882708 RGD:10401069, RGD:11041648 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266 		JBrowse link
G Epor erythropoietin receptor IEP mRNA,protein:increased expression:retina: RGD PMID:17882708 RGD:11041648 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321 		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 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 IEP mRNA,protein:increased expression:layer of retina: RGD PMID:10670490 RGD:10402077 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449 		JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804 		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 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807 		JBrowse link
G Jak2 Janus kinase 2 IDA protein:increased tyrosine phosphorylation:retina RGD PMID:22251399 RGD:10411890 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509 		JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha IEP RGD PMID:26093278 RGD:11561987 NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935 		JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Retinal detachment ClinVar PMID:25741868 NCBI chr  X:6,791,090...6,815,586
Ensembl chr  X:6,791,136...6,815,583
Ensembl chr  X:6,791,136...6,815,583 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 IEP protein:increased expression:retina RGD PMID:18097183 RGD:5684405 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373 		JBrowse link
G Prkcq protein kinase C, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26978024 NCBI chr17:70,971,915...71,105,286
Ensembl chr17:70,971,915...71,105,286 		JBrowse link
G Tnf tumor necrosis factor treatment IDA
ISO		 RGD PMID:21402953, PMID:21402953 RGD:5131257, RGD:5131257 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO RGD PMID:21402953 RGD:5131257 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:21402953 RGD:5131257 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299 		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 synonym: Knobloch syndrome 1 ClinVar PMID:21862674 PMID:23667181 NCBI chr19:46,005,055...46,167,912
Ensembl chr19:46,005,277...46,101,250 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Knobloch syndrome 1
ClinVar Annotator: match by OMIM:267750
ClinVar Annotator: match by term: RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE		 OMIM
ClinVar		 PMID:1554013 PMID:10942434 PMID:12415512 PMID:14695535 PMID:17546652 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:28041643 PMID:28492532 PMID:29977801 PMID:30007336 PMID:32860008 NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Knobloch syndrome 1 ClinVar PMID:1554013 PMID:14695535 PMID:19390655 PMID:21862674 PMID:23667181 PMID:24033266 PMID:25456301 PMID:25741868 PMID:26467025 PMID:28041643 PMID:28492532 PMID:29977801 PMID:32860008 NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377 		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 ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:9677055 PMID:11527934 PMID:21441919 PMID:21474777 PMID:22068589 PMID:22645276 NCBI chr20:27,082,961...27,083,410
Ensembl chr20:27,082,961...27,083,410 		JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive ClinVar PMID:25250762 NCBI chr 4:48,852,823...48,953,240
Ensembl chr 4:48,852,827...48,928,372 		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 null
ClinVar Annotator: match by term: Rhegmatogenous retinal detachment, autosomal dominant		 ClinVar PMID:10982970 PMID:12939326 PMID:15671297 PMID:25741868, PMID:15671297 RGD:8657388 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997 		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: Spondyloocular syndrome, autosomal recessive ClinVar PMID:16571645 PMID:25741868 PMID:26027496 PMID:30496831 NCBI chr10:82,386,003...82,399,485
Ensembl chr10:82,386,005...82,399,485 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    sensory system disease 5245
      eye disease 2673
        retinal disease 780
          retinal detachment 35
            Diverticulosis of Bowel, Hernia, and Retinal Detachment 0
            Knobloch Syndrome 3
            Knobloch Syndrome Type II 0
            Knobloch Syndrome Type III 0
            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 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          eye disease 2673
            retinal disease 780
              retinal detachment 35
                Diverticulosis of Bowel, Hernia, and Retinal Detachment 0
                Knobloch Syndrome 3
                Knobloch Syndrome Type II 0
                Knobloch Syndrome Type III 0
                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