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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
 broad_synonym: FZD4-related condition
 xref: MESH:C536382;   MIM:133780;   MONDO:0007589;   NCI:C175048;   ORDO:90050


show annotations for term's descendants           Sort by:
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 1:153,152,032...153,203,586
Ensembl chr 1:153,152,034...153,203,984 		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 1:153,580,786...153,655,110
Ensembl chr 1:153,579,848...153,638,176 		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 1:153,798,786...153,800,048
Ensembl chr 1:153,797,440...153,803,002 		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 1:153,829,544...153,836,073
Ensembl chr 1:153,829,448...153,845,122 		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 chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662 		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 1:153,864,545...155,916,238
Ensembl chr 1:153,865,299...155,916,215 		JBrowse link
G Eed embryonic ectoderm development ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:153,280,419...153,307,537
Ensembl chr 1:153,280,422...153,307,500 		JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: FZD4-related condition | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant 		OMIM
CTD
ClinVar
RGD		 PMID:12172548 PMID:14507768 PMID:15035989 PMID:15370539 PMID:15488808 More... RGD:1598999 NCBI chr 1:152,692,507...152,701,372
Ensembl chr 1:152,692,507...152,701,372 		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 1:153,237,948...153,261,856
Ensembl chr 1:153,237,948...153,261,911 		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:9536098 PMID:11719191 PMID:12579474 PMID:15024691 PMID:15077203 More... NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:210,243,502...210,346,822 		JBrowse link
G Me3 malic enzyme 3 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:152,946,595...153,148,026
Ensembl chr 1:152,946,628...153,148,026 		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 1:153,468,982...153,550,086
Ensembl chr 1:153,469,202...153,550,237 		JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: FZD4-related condition | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant ClinVar PMID:12172548 PMID:14507768 PMID:15035989 PMID:15488808 PMID:15733276 More... NCBI chr 1:152,815,301...152,835,005
Ensembl chr 1:152,813,670...152,947,871 		JBrowse link
G Sytl2 synaptotagmin-like 2 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:153,685,403...153,791,758
Ensembl chr 1:153,665,327...153,791,756 		JBrowse link
G Tmem126a transmembrane protein 126A ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:153,837,015...153,843,192
Ensembl chr 1:153,835,236...153,843,160 		JBrowse link
G Tmem126b transmembrane protein 126B ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:153,852,081...153,864,038
Ensembl chr 1:153,852,088...153,863,970 		JBrowse link
G Tmem135 transmembrane protein 135 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:152,418,929...152,692,405
Ensembl chr 1:152,418,930...152,633,717 		JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:23716654 PMID:25741868 PMID:27316669 PMID:28492532 NCBI chr 3:98,071,210...98,077,075
Ensembl chr 3:98,072,568...98,077,196 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19154
    sensory system disease 7347
      eye disease 3556
        Hereditary Eye Diseases 1140
          exudative vitreoretinopathy 23
            exudative vitreoretinopathy 1 18
Path 2
Term Annotations click to browse term
  disease 19154
    Pathological Conditions, Signs and Symptoms 13647
      Signs and Symptoms 11199
        Neurologic Manifestations 10443
          sensory system disease 7347
            eye disease 3556
              retinal disease 1466
                retinal vascular disease 217
                  exudative vitreoretinopathy 23
                    exudative vitreoretinopathy 1 18
paths to the root