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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:exudative vitreoretinopathy
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Accession:DOID:0050535 term browser browse the term
Definition:A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. (DO)
Synonyms:exact_synonym: FEVR;   familial exudative vitreoretinopathy
 primary_id: MESH:D000080345
 xref: GARD:1613;   ICD10CM:H35.00;   ICD9CM:362.10;   OMIM:PS133780;   ORDO:891


show annotations for term's descendants           Sort by:
exudative vitreoretinopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29207047 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Cdh5 cadherin 5 ISS MouseDO NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368 		JBrowse link
G Ctnnb1 catenin beta 1 ISS MouseDO NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Fzd4 frizzled class receptor 4 ISS
ISO		 OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310
ClinVar Annotator: match by term: Familial exudative vitreoretinopathy		 MouseDO
ClinVar		 PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 1:143,279,934...143,288,799
Ensembl chr 1:143,280,065...143,285,724 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial exudative vitreoretinopathy		 CTD
MouseDO
ClinVar		 PMID:8832721 PMID:11719191 PMID:15024691 PMID:16199547 PMID:16252235 More... NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Ndp norrin cystine knot growth factor NDP ISS OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310 MouseDO NCBI chr  X:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934 		JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 1:143,402,725...143,422,182
Ensembl chr 1:143,401,396...143,422,091 		JBrowse link
G Tspan12 tetraspanin 12 ISS
ISO		 OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310
ClinVar Annotator: match by term: Familial exudative vitreoretinopathy		 MouseDO
ClinVar		 PMID:25250762 PMID:28041643 PMID:28492532 NCBI chr 4:50,313,768...50,389,246
Ensembl chr 4:50,313,772...50,389,246 		JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy ClinVar NCBI chr 3:77,615,595...77,621,325 JBrowse link
exudative vitreoretinopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc81 coiled-coil domain containing 81 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:143,739,472...143,791,026
Ensembl chr 1:143,739,474...143,790,926 		JBrowse link
G Ccdc83 coiled-coil domain containing 83 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:144,167,993...144,225,622
Ensembl chr 1:144,167,857...144,225,656 		JBrowse link
G Ccdc89 coiled-coil domain containing 89 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:144,386,252...144,387,514
Ensembl chr 1:144,386,158...144,389,850 		JBrowse link
G Crebzf CREB/ATF bZIP transcription factor ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:144,416,864...144,423,540
Ensembl chr 1:144,417,446...144,428,553 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant ClinVar PMID:28492532 PMID:28575650 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Dlg2 discs large MAGUK scaffold protein 2 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:144,451,653...146,503,949
Ensembl chr 1:144,451,472...146,499,475 		JBrowse link
G Eed embryonic ectoderm development ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:143,867,875...143,895,008
Ensembl chr 1:143,867,875...143,894,974 		JBrowse link
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:12172548 PMID:14507768 PMID:15035989 PMID:15370539 PMID:15488808 More... RGD:1598999 NCBI chr 1:143,279,934...143,288,799
Ensembl chr 1:143,280,065...143,285,724 		JBrowse link
G Hikeshi heat shock protein nuclear import factor hikeshi ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:143,825,399...143,849,361
Ensembl chr 1:143,825,923...143,849,363 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant		 CTD
ClinVar		 PMID:11719191 PMID:12579474 PMID:15024691 PMID:15077203 PMID:15201508 More... NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Me3 malic enzyme 3 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:143,534,024...143,735,551
Ensembl chr 1:143,534,139...143,733,132 		JBrowse link
G Picalm phosphatidylinositol binding clathrin assembly protein ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:144,056,415...144,138,045
Ensembl chr 1:144,056,721...144,137,557 		JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant ClinVar PMID:12172548 PMID:14507768 PMID:15035989 PMID:15488808 PMID:15733276 More... NCBI chr 1:143,402,725...143,422,182
Ensembl chr 1:143,401,396...143,422,091 		JBrowse link
G Sytl2 synaptotagmin-like 2 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:144,272,870...144,379,310
Ensembl chr 1:144,273,360...144,379,222 		JBrowse link
G Tmem126a transmembrane protein 126A ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:144,424,481...144,430,730
Ensembl chr 1:144,422,703...144,430,628 		JBrowse link
G Tmem126b transmembrane protein 126B ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:144,437,142...144,451,508
Ensembl chr 1:144,437,145...144,451,435 		JBrowse link
G Tmem135 transmembrane protein 135 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:143,006,343...143,279,824
Ensembl chr 1:143,006,344...143,221,171 		JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:23716654 PMID:27316669 PMID:28492532 NCBI chr 3:77,615,595...77,621,325 JBrowse link
exudative vitreoretinopathy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Exudative vitreoretinopathy 4 | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal dominant | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal recessive | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, digenic		 OMIM
CTD
ClinVar		 PMID:8832721 PMID:9056564 PMID:9831343 PMID:11719191 PMID:12579474 More... NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
exudative vitreoretinopathy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15665352 PMID:20159111 PMID:20159112 PMID:21334594 PMID:21552475 More... NCBI chr 4:50,313,768...50,389,246
Ensembl chr 4:50,313,772...50,389,246 		JBrowse link
exudative vitreoretinopathy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf408 zinc finger protein 408 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Exudative vitreoretinopathy 6		 OMIM
CTD
ClinVar		 PMID:6897033 PMID:23716654 PMID:25741868 PMID:25882705 PMID:28492532 More... NCBI chr 3:77,615,595...77,621,325 JBrowse link
exudative vitreoretinopathy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: EXUDATIVE VITREORETINOPATHY 7 | ClinVar Annotator: match by term: Exudative vitreoretinopathy 7 OMIM
ClinVar		 PMID:23033978 PMID:24614104 PMID:25326635 PMID:25326669 PMID:25741868 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
X-linked exudative vitreoretinopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndp norrin cystine knot growth factor NDP ISO DNA:missense mutation: :p.L124F (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Exudative vitreoretinopathy 2, X-linked | ClinVar Annotator: match by term: Exudative vitreoretinopathy, X-linked		 OMIM
CTD
ClinVar
RGD		 PMID:95062 PMID:1307245 PMID:7558002 PMID:7795608 PMID:8252044 More... RGD:8694209 NCBI chr  X:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    sensory system disease 6883
      eye disease 3446
        Eye Abnormalities 775
          exudative vitreoretinopathy 22
            X-linked exudative vitreoretinopathy 2 1
            exudative vitreoretinopathy 1 18
            exudative vitreoretinopathy 3 0
            exudative vitreoretinopathy 4 1
            exudative vitreoretinopathy 5 1
            exudative vitreoretinopathy 6 1
            exudative vitreoretinopathy 7 1
Path 2
Term Annotations click to browse term
  disease 21118
    Pathological Conditions, Signs and Symptoms 13262
      Signs and Symptoms 10744
        Neurologic Manifestations 9982
          sensory system disease 6883
            eye disease 3446
              retinal disease 1197
                retinal vascular disease 211
                  exudative vitreoretinopathy 22
                    X-linked exudative vitreoretinopathy 2 1
                    exudative vitreoretinopathy 1 18
                    exudative vitreoretinopathy 3 0
                    exudative vitreoretinopathy 4 1
                    exudative vitreoretinopathy 5 1
                    exudative vitreoretinopathy 6 1
                    exudative vitreoretinopathy 7 1
paths to the root