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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 1
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Accession:DOID:0111412 term browser browse the term
Definition:An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2. (DO)
Synonyms:exact_synonym: Criswick-Schepens syndrome;   EVR1;   FEVR, autosomal dominant;   familial exudative vitreoretinopathy, autosomal dominant
 narrow_synonym: ROP;   retinopathy of prematurity
 primary_id: MESH:C536382
 alt_id: OMIM:133780
 xref: MONDO:0007589;   NCI:C175048;   ORDO:90050

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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 chrNW_004955414:6,567,722...6,623,043
Ensembl chrNW_004955414:6,568,114...6,622,689 		JBrowse link
G Ccdc83 coiled-coil domain containing 83 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004955414:6,982,591...7,029,337
Ensembl chrNW_004955414:6,982,741...7,022,964 		JBrowse link
G Ccdc89 coiled-coil domain containing 89 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004955414:7,197,533...7,200,234
Ensembl chrNW_004955414:7,198,795...7,199,913 		JBrowse link
G Crebzf CREB/ATF bZIP transcription factor ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004955414:7,190,234...7,213,042
Ensembl chrNW_004955414:7,206,343...7,209,498 		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 PMID:36083290 NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449 		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 chrNW_004955414:7,247,248...9,171,664
Ensembl chrNW_004955414:7,850,450...9,171,815 		JBrowse link
G Eed embryonic ectoderm development ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004955414:6,659,144...6,685,530
Ensembl chrNW_004955414:6,659,055...6,685,530 		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 OMIM
ClinVar		 PMID:12172548 PMID:14507768 PMID:15035989 PMID:15370539 PMID:15488808 More... NCBI chrNW_004955414:6,094,585...6,103,910
Ensembl chrNW_004955414:6,094,585...6,098,865 		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 chrNW_004955414:6,632,434...6,656,633
Ensembl chrNW_004955414:6,628,216...6,656,633 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant ClinVar PMID:9536098 PMID:11719191 PMID:12579474 PMID:15024691 PMID:15077203 More... NCBI chrNW_004955422:17,394,371...17,475,244
Ensembl chrNW_004955422:17,394,371...17,505,763 		JBrowse link
G Me3 malic enzyme 3 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004955414:6,335,411...6,555,494
Ensembl chrNW_004955414:6,343,476...6,557,058 		JBrowse link
G Picalm phosphatidylinositol binding clathrin assembly protein ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004955414:6,871,220...6,970,569
Ensembl chrNW_004955414:6,871,520...6,969,208 		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 chrNW_004955414:6,202,383...6,213,521
Ensembl chrNW_004955414:6,202,383...6,213,521 		JBrowse link
G Sytl2 synaptotagmin like 2 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004955414:7,104,239...7,172,791
Ensembl chrNW_004955414:7,104,268...7,174,001 		JBrowse link
G Tmem126a transmembrane protein 126A ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004955414:7,214,408...7,224,499
Ensembl chrNW_004955414:7,216,286...7,224,475 		JBrowse link
G Tmem126b transmembrane protein 126B ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004955414:7,235,864...7,245,595
Ensembl chrNW_004955414:7,234,610...7,245,519 		JBrowse link
G Tmem135 transmembrane protein 135 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004955414:5,810,639...6,016,949
Ensembl chrNW_004955414:5,810,639...6,017,591 		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 chrNW_004955422:1,373,694...1,377,688 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6160
      eye disease 3164
        Hereditary Eye Diseases 1032
          exudative vitreoretinopathy 22
            exudative vitreoretinopathy 1 18
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6160
            eye disease 3164
              retinal disease 1107
                retinal vascular disease 182
                  exudative vitreoretinopathy 22
                    exudative vitreoretinopathy 1 18
paths to the root