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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:retinopathy of prematurity
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Accession:DOID:13025 term browser browse the term
Definition:A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed)
Synonyms:exact_synonym: Prematurity Retinopathies;   Prematurity Retinopathy;   Retrolental Fibroplasia;   Retrolental Fibroplasias;   premature retinopathy
 primary_id: MESH:D012178;   RDO:0006483
 xref: EFO:1001158;   GARD:5695;   ICD10CM:H35.1;   ICD9CM:362.21;   NCI:C34982
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
retinopathy of prematurity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb3 adrenoceptor beta 3 ISO protein:increased expression:retina (mouse) RGD PMID:20739470 RGD:5684355 NCBI chr16:71,544,603...71,547,410
Ensembl chr16:71,542,567...71,547,420 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387897 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944 		JBrowse link
G Angpt2 angiopoietin 2 susceptibility IDA
IEP
ISO 		protein:increased expression:retina (rat)
mRNA:increased expression:retina (mouse) 		RGD PMID:17692314 PMID:17692314 PMID:17065527 RGD:2314205, RGD:2314205, RGD:2314207 NCBI chr16:77,790,760...77,841,241
Ensembl chr16:77,790,563...77,841,239 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 treatment IEP RGD PMID:30652694 RGD:155663485 NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:126,770,794...126,780,763 		JBrowse link
G Epo erythropoietin IEP protein:decreased expression:retina: RGD PMID:24630601 RGD:11041658 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725 		JBrowse link
G Epor erythropoietin receptor IEP protein:increased expression,increased activity:retina: RGD PMID:24630601 RGD:11041658 NCBI chr 8:28,765,738...28,770,371
Ensembl chr 8:28,765,746...28,770,322 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 treatment ISO
IEP 		RGD PMID:21731737 PMID:30652694 RGD:5684426, RGD:155663485 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:12,333,430...12,504,750 		JBrowse link
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Retinopathy of prematurity ClinVar PMID:15733276 PMID:28492532 NCBI chr 1:152,692,507...152,701,372
Ensembl chr 1:152,692,507...152,701,372 		JBrowse link
G Hgf hepatocyte growth factor ISO RGD PMID:10751359 RGD:8548546 NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:19,632,267...19,700,851 		JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP mRNA:increased expression:retina (rat) RGD PMID:20368504 RGD:4145427 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:27,829,161...27,841,617 		JBrowse link
G Igf1 insulin-like growth factor 1 no_association ISO
IEP 		protein:decreased expression:serum:
mRNA:decreased expression:retina 		RGD PMID:20085549 PMID:20214047 PMID:16500767 RGD:8548825, RGD:8548867, RGD:8548852 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO associated with Obstetric Labor, Premature; protein:decreased expression:plasma: RGD PMID:23202391 RGD:12743584 NCBI chr14:86,270,208...86,277,944
Ensembl chr14:86,270,208...86,277,944 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO DNA:SNP RGD PMID:18787502 RGD:12910978 NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:83,952,986...83,959,203 		JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:vitreous humor RGD PMID:19700197 RGD:7364863 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:23113620 RGD:7204128 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Kdr kinase insert domain receptor treatment ISO
IEP 		mRNA:increased expression:retina
associated with premature birth;protein:increased expression:plasma: 		RGD PMID:21731737 PMID:30652694 PMID:15039215 PMID:18408080 RGD:5684426, RGD:155663485, RGD:8549753, RGD:8549746 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192 		JBrowse link
G Ndp norrin cystine knot growth factor NDP severity ISO DNA:missense mutations:exon:p.R121W, p.L108P (human) RGD PMID:9152134 RGD:8694210 NCBI chr  X:8,379,569...8,404,019
Ensembl chr  X:8,379,569...8,406,802 		JBrowse link
G Nos1 nitric oxide synthase 1 IEP protein:increased expression:retina RGD PMID:23204802 RGD:7257667 NCBI chr12:44,276,011...44,456,371
Ensembl chr12:44,287,614...44,371,837 		JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:retina RGD PMID:23204802 RGD:7257667 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:64,313,335...64,401,880 		JBrowse link
G Nos3 nitric oxide synthase 3 severity ISO DNA:duplication:intron:IVS4?-?+27 (human) RGD PMID:18334945 RGD:7771560 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Notch1 notch receptor 1 treatment IEP RGD PMID:30652694 RGD:155663485 NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613 		JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Retinopathy of prematurity ClinVar PMID:15733276 PMID:28492532 NCBI chr 1:152,815,301...152,835,005
Ensembl chr 1:152,813,670...152,947,871 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms:cds:HLA-B*38 (human) RGD PMID:24033735 RGD:7365093 NCBI chr20:3,314,491...3,322,815 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*09, HLA-DRB1*14(human) RGD PMID:24033735 RGD:7365093 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
G Serpine1 serpin family E member 1 ISO human protein in a rat model RGD PMID:14638747 RGD:8547810 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
G Serpinf1 serpin family F member 1 IEP mRNA, protein:increased expression:retina (rat) RGD PMID:21738387 RGD:8655555 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898 		JBrowse link
G Sod1 superoxide dismutase 1 susceptibility ISO DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human) RGD PMID:22958044 RGD:8655635 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:subretinal fluid: RGD PMID:10751359 RGD:8548546 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
Oxygen-Induced Retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing treatment ISO RGD PMID:19342600 RGD:7394795 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:91,226,180...91,240,169 		JBrowse link
G Amigo2 adhesion molecule with Ig like domain 2 treatment ISO RGD PMID:26553931 RGD:14392781 NCBI chr 7:130,270,639...130,273,735
Ensembl chr 7:130,270,554...130,282,218 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ameliorates ISO RGD PMID:35445044 RGD:329812014 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:23,204,464...23,366,900 		JBrowse link
G Casp3 caspase 3 ameliorates ISO RGD PMID:35445044 RGD:329812014 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:52,395,540...52,413,732 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO
IDA 		mRNA:increased expression:retina (mouse) RGD PMID:16710171 PMID:19038868 RGD:8548878, RGD:11526145 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccn1 cellular communication network factor 1 ameliorates ISO RGD PMID:35445044 RGD:329812014 NCBI chr 2:237,222,730...237,225,689
Ensembl chr 2:237,222,432...237,225,883 		JBrowse link
G Csnk2a1 casein kinase 2 alpha 1 ISO RGD PMID:16651637 RGD:11565123 NCBI chr 3:161,170,295...161,217,073
Ensembl chr 3:161,170,405...161,215,698 		JBrowse link
G Csnk2a2 casein kinase 2 alpha 2 ISO RGD PMID:16651637 RGD:11565123 NCBI chr19:9,562,340...9,602,136
Ensembl chr19:9,562,321...9,602,136 		JBrowse link
G Csnk2b casein kinase 2 beta ISO RGD PMID:16651637 RGD:11565123 NCBI chr20:3,704,833...3,709,999
Ensembl chr20:3,704,904...3,710,525 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 treatment IEP RGD PMID:26670826 RGD:155663663 NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:126,770,794...126,780,763 		JBrowse link
G Efnb2 ephrin B2 IEP mRNA:increased expression:retina RGD PMID:26670826 RGD:155663663 NCBI chr16:87,485,215...87,529,224
Ensembl chr16:87,485,198...87,529,208 		JBrowse link
G Ephb4 EPH receptor B4 treatment IEP RGD PMID:26670826 RGD:155663663 NCBI chr12:24,963,174...24,988,473
Ensembl chr12:24,963,174...24,988,388 		JBrowse link
G Fas Fas cell surface death receptor ISO mRNA:increased expression:retina RGD PMID:17102953 RGD:12903974 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		JBrowse link
G Faslg Fas ligand ISO RGD PMID:17102953 RGD:12903974 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:76,688,243...76,695,503 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide IEP RGD PMID:21642627 RGD:12904963 NCBI chr 4:148,421,315...148,431,128
Ensembl chr 4:148,421,315...148,425,969 		JBrowse link
G Ghsr growth hormone secretagogue receptor treatment IMP RGD PMID:21642627 RGD:12904963 NCBI chr 2:112,196,158...112,201,666
Ensembl chr 2:112,196,767...112,201,181 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment
ameliorates 		ISO mRNA:increased expression:retina (mouse) RGD PMID:18087198 PMID:20220049 PMID:35445044 RGD:8695923, RGD:9068455, RGD:329812014 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:98,359,910...98,405,323 		JBrowse link
G Hmgb1 high mobility group box 1 treatment ISO RGD PMID:24371837 RGD:10402057 NCBI chr12:11,009,236...11,015,941
Ensembl chr16:39,039,050...39,041,327
Ensembl chr12:39,039,050...39,041,327 		JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum (rat) RGD PMID:18344903 RGD:12910457 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Il1b interleukin 1 beta ameliorates ISO RGD PMID:35445044 RGD:329812014 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Kdr kinase insert domain receptor treatment IEP
IMP 		RGD PMID:17349140 PMID:15951738 RGD:8549715, RGD:1581593 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:19433784 RGD:10412674 NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,645,198...8,728,427 		JBrowse link
G Mir126a microRNA 126a ameliorates ISO RGD PMID:21586283 RGD:401850785 NCBI chr 3:29,813,150...29,813,267 JBrowse link
G Mir145 microRNA 145 ameliorates ISO RGD PMID:35445044 RGD:329812014 NCBI chr18:57,369,983...57,370,070 JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein IEP mRNA:decreased expression:retina: RGD PMID:21350694 RGD:10401135 NCBI chr 8:128,747,117...128,777,238
Ensembl chr 8:128,747,232...128,777,936 		JBrowse link
G Ndp norrin cystine knot growth factor NDP treatment ISO RGD PMID:20053900 RGD:8694208 NCBI chr  X:8,379,569...8,404,019
Ensembl chr  X:8,379,569...8,406,802 		JBrowse link
G Ntn1 netrin 1 treatment IEP RGD PMID:26670826 RGD:155663663 NCBI chr10:53,398,852...53,597,595
Ensembl chr10:53,398,852...53,584,060 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO protein:decreased expression:retina (mouse) RGD PMID:18806296 RGD:2301844 NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:150,095,787...150,221,104 		JBrowse link
G Ptafr platelet-activating factor receptor treatment IMP RGD PMID:12356842 RGD:10041062 NCBI chr 5:150,049,322...150,079,060
Ensembl chr 5:150,049,460...150,079,408 		JBrowse link
G Ptger3 prostaglandin E receptor 3 IEP protein:increased expression:retina (rat) RGD PMID:12821538 RGD:9850261 NCBI chr 2:249,264,985...249,409,966
Ensembl chr 2:249,264,985...249,409,846 		JBrowse link
G Serpine1 serpin family E member 1 severity
treatment 		ISO
IEP 		mRNA, protein:increased expression:retina (mouse) RGD PMID:19443721 PMID:19443721 PMID:11133880 RGD:8547749, RGD:8547749, RGD:13208592 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
G Serpinf1 serpin family F member 1 treatment
susceptibility 		ISO
IEP 		human gene in a mouse model
mRNA, protein:decreased expression:retina (rat) 		RGD PMID:21281801 PMID:11916948 RGD:8554878, RGD:8655544 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898 		JBrowse link
G Sod1 superoxide dismutase 1 ISO RGD PMID:16741961 RGD:8655606 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:16303927 RGD:8694296 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:86,311,535...86,363,359 		JBrowse link
G Tnf tumor necrosis factor ameliorates ISO RGD PMID:15681845 PMID:19342600 PMID:35445044 RGD:7394799, RGD:7394795, RGD:329812014 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Tug1 taurine up-regulated 1 ameliorates ISO RGD PMID:35445044 RGD:329812014 NCBI chr14:82,743,501...82,750,534
Ensembl chr14:82,746,113...82,750,534 		JBrowse link
G Vegfa vascular endothelial growth factor A ameliorates IEP
ISO 		mRNA:increased expression:retina: RGD PMID:15303088 PMID:35445044 RGD:7483624, RGD:329812014 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      eye disease 3565
        retinal disease 1474
          retinopathy of prematurity 56
            Oxygen-Induced Retinopathy 37
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            eye disease 3565
              retinal disease 1474
                retinopathy of prematurity 56
                  Oxygen-Induced Retinopathy 37
paths to the root