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ONTOLOGY REPORT - ANNOTATIONS


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 FZD4 on chromosome 11q14.2. (DO)
Synonyms:exact_synonym: Criswick-Schepens syndrome;   EVR1;   Fevr, Autosomal Dominant;   familial exudative vitreoretinopathy, autosomal dominant
 narrow_synonym: CRISWICK-SCHEPENS SYNDROME RETINOPATHY OF PREMATURITY;   ROP
 primary_id: MESH:C536382
 alt_id: DOID:9006316;   OMIM:133780;   RDO:0001945
For additional species annotation, visit the Alliance of Genome Resources.


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exudative vitreoretinopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc81 coiled-coil domain containing 81 JBrowse link 1 154,064,132 154,111,999 RGD:8554872
G Ccdc83 coiled-coil domain containing 83 JBrowse link 1
1
154,478,426
156,485,039
154,507,075
156,509,513
RGD:8554872
G Ccdc89 coiled-coil domain containing 89 JBrowse link 1 154,606,461 154,607,723 RGD:8554872
G Crebzf CREB/ATF bZIP transcription factor JBrowse link 1 156,290,215 156,296,891 RGD:8554872
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:8554872
G Dlg2 discs large MAGUK scaffold protein 2 JBrowse link 1 154,916,274 157,274,077 RGD:8554872
G Eed embryonic ectoderm development JBrowse link 1 154,189,252 154,216,340 RGD:8554872
G Fzd4 frizzled class receptor 4 JBrowse link 1 153,589,471 153,598,376 RGD:1598999
RGD:8554872
RGD:7240710
G Hikeshi heat shock protein nuclear import factor JBrowse link 1 154,147,098 154,170,429 RGD:8554872
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:11554173
RGD:8554872
G Me3 malic enzyme 3 JBrowse link 1 153,861,535 154,058,608 RGD:8554872
G Picalm phosphatidylinositol binding clathrin assembly protein JBrowse link 1 154,377,229 154,458,966 RGD:8554872
G Prss23 serine protease 23 JBrowse link 1 153,732,528 153,742,111 RGD:8554872
G Sytl2 synaptotagmin-like 2 JBrowse link 1
1
154,536,592
156,334,298
154,599,515
156,440,327
RGD:8554872
G Tmem126a transmembrane protein 126A JBrowse link 1 156,283,105 156,291,057 RGD:8554872
G Tmem126b transmembrane protein 126B JBrowse link 1 156,262,220 156,274,207 RGD:8554872
G Tmem135 transmembrane protein 135 JBrowse link 1 152,886,496 153,096,225 RGD:8554872
G Znf408 zinc finger protein 408 JBrowse link 3 80,549,102 80,555,186 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      cardiovascular system disease 4218
        vascular disease 3250
          retinal vascular disease 163
            exudative vitreoretinopathy 20
              exudative vitreoretinopathy 1 18
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        sensory system disease 4596
          eye and adnexa disease 2148
            eye disease 2148
              retinal disease 718
                retinal vascular disease 163
                  exudative vitreoretinopathy 20
                    exudative vitreoretinopathy 1 18
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.