ONTOLOGY REPORT - ANNOTATIONS


Term:refractive error
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Accession:DOID:9835 term browser browse the term
Definition:Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.
Synonyms:exact_synonym: Ametropia;   Ametropias;   Refractive Disorder;   Refractive Disorders;   refractive errors
 primary_id: MESH:D012030;   RDO:0004855
For additional species annotation, visit the Alliance of Genome Resources.


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refractive error term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actc1 actin, alpha, cardiac muscle 1 JBrowse link 3 105,507,403 105,512,939 RGD:11554173
G Gjd2 gap junction protein, delta 2 JBrowse link 3 105,467,480 105,470,475 RGD:11554173
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 JBrowse link 8 97,277,250 97,405,095 RGD:11554173
3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:7240710
RGD:11554173
RGD:8554872
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:11554173
ALAZAMI-YUAN SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Taf6 TATA-box binding protein associated factor 6 JBrowse link 12 19,320,269 19,328,706 RGD:8554872
RGD:7240710
anisometropia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
astigmatism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd11 ankyrin repeat domain 11 JBrowse link 19 55,703,831 55,862,446 RGD:8554872
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:8554872
G Slc9a6 solute carrier family 9 member A6 JBrowse link X 158,979,081 159,045,019 RGD:8554872
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 coatomer protein complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:1598958
RGD:11554173
RGD:8554872
RGD:7240710
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
Cochlear Deafness with Myopia and Intellectual Impairment term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slitrk6 SLIT and NTRK-like family, member 6 JBrowse link 15 95,507,632 95,514,259 RGD:8554872
Cohen Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mir875 microRNA 875 JBrowse link 7 74,423,233 74,423,305 RGD:8554872
G Vps13b vacuolar protein sorting 13 homolog B JBrowse link 7 74,118,834 74,722,341 RGD:7240710
RGD:8554872
RGD:11554173
congenital stationary night blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:8554872
G Cabp4 calcium binding protein 4 JBrowse link 1 219,383,452 219,388,009 RGD:8554872
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:734671
RGD:13782370
RGD:8554872
RGD:11554173
G Cacna1f csnb calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant RGD:13782370
G Dennd4a DENN domain containing 4A JBrowse link 8 70,293,355 70,406,675 RGD:8554872
G Gnat1 G protein subunit alpha transducin 1 JBrowse link 8 116,433,302 116,438,038 RGD:8554872
RGD:11554173
G Gnb3 G protein subunit beta 3 JBrowse link 4 157,352,558 157,359,237 RGD:11554173
G Gpr179 G protein-coupled receptor 179 JBrowse link 10 85,273,839 85,289,886 RGD:8554872
RGD:11554173
G Grm6 glutamate metabotropic receptor 6 JBrowse link 10 36,345,503 36,363,416 RGD:11554173
RGD:8554872
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 JBrowse link 2 235,213,017 235,232,894 RGD:8554872
RGD:11554173
G Nyx nyctalopin JBrowse link X 10,197,547 10,218,583 RGD:11554173
RGD:8554872
G Pde6b phosphodiesterase 6B JBrowse link 14 2,328,690 2,371,913 RGD:11554173
RGD:8554872
G Rbp3 retinol binding protein 3 JBrowse link 16 10,277,775 10,286,243 RGD:8554872
G Rho rhodopsin JBrowse link 4 147,832,136 147,837,298 RGD:11554173
RGD:8554872
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:8554872
G Sag S-antigen visual arrestin JBrowse link 9 94,926,901 94,972,162 RGD:11554173
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872
RGD:11554173
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 JBrowse link 1 124,983,391 125,101,759 RGD:7175555
RGD:8554872
RGD:11554173
RGD:7183085
RGD:7183084
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 JBrowse link 10 59,829,755 59,863,780 RGD:7175555
congenital stationary night blindness 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nyx nyctalopin JBrowse link X 10,197,547 10,218,583 RGD:7240710
RGD:8554872
congenital stationary night blindness 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grm6 glutamate metabotropic receptor 6 JBrowse link 10 36,345,503 36,363,416 RGD:7240710
RGD:8554872
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872
congenital stationary night blindness 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grm6 glutamate metabotropic receptor 6 JBrowse link 10 36,345,503 36,363,416 RGD:8554872
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 JBrowse link 1 124,983,391 125,101,759 RGD:7240710
RGD:8554872
congenital stationary night blindness 1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grm6 glutamate metabotropic receptor 6 JBrowse link 10 36,345,503 36,363,416 RGD:8554872
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:7240710
RGD:8554872
congenital stationary night blindness 1E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr179 G protein-coupled receptor 179 JBrowse link 10 85,273,839 85,289,886 RGD:7240710
RGD:8554872
G Grm6 glutamate metabotropic receptor 6 JBrowse link 10 36,345,503 36,363,416 RGD:8554872
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872
congenital stationary night blindness 1F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 JBrowse link 2 235,213,017 235,232,894 RGD:7240710
RGD:8554872
congenital stationary night blindness 1G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnat1 G protein subunit alpha transducin 1 JBrowse link 8 116,433,302 116,438,038 RGD:7240710
RGD:8554872
congenital stationary night blindness 1H term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdca3 cell division cycle associated 3 JBrowse link 4 157,347,876 157,351,889 RGD:8554872
G Gnb3 G protein subunit beta 3 JBrowse link 4 157,352,558 157,359,237 RGD:8554872
RGD:7240710
congenital stationary night blindness 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:7240710
RGD:8554872
Congenital Stationary Night Blindness 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cabp4 calcium binding protein 4 JBrowse link 1 219,383,452 219,388,009 RGD:7240710
RGD:8554872
congenital stationary night blindness autosomal dominant 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rho rhodopsin JBrowse link 4 147,832,136 147,837,298 RGD:7240710
RGD:8554872
congenital stationary night blindness autosomal dominant 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde6b phosphodiesterase 6B JBrowse link 14 2,328,690 2,371,913 RGD:7240710
RGD:8554872
congenital stationary night blindness autosomal dominant 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnat1 G protein subunit alpha transducin 1 JBrowse link 8 116,433,302 116,438,038 RGD:7240710
RGD:8554872
DEAFNESS AND MYOPIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slitrk6 SLIT and NTRK-like family, member 6 JBrowse link 15 95,507,632 95,514,259 RGD:7240710
RGD:8554872
degenerative myopia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:13592920
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:7421542
RGD:7483572
Donnai-Barrow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbrd1 LMBR1 domain containing 1 JBrowse link 9 30,939,555 31,038,381 RGD:8554872
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:7240710
RGD:8554872
Duane retraction syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chn1 chimerin 1 JBrowse link 3 60,512,360 60,668,413 RGD:7240710
RGD:8554872
G Mafb MAF bZIP transcription factor B JBrowse link 3 156,338,993 156,340,913 RGD:8554872
RGD:7240710
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:11556210
RGD:11554173
RGD:11532205
RGD:11556232
RGD:11556231
RGD:11556215
RGD:11556211
esotropia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd11 ankyrin repeat domain 11 JBrowse link 19 55,703,831 55,862,446 RGD:8554872
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:8554872
high hyperopia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfrp membrane frizzled-related protein JBrowse link 8 48,437,720 48,443,421 RGD:11076374
High Myopia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8552654
RGD:8552655
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8657342
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8552263
RGD:8552307
RGD:8552290
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 JBrowse link 8 97,277,250 97,405,095 RGD:10003136
hyperopia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:12801467
G Topors TOP1 binding arginine/serine rich protein JBrowse link 5 56,554,956 56,566,503 RGD:8554872
Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Irx5 iroquois homeobox 5 JBrowse link 19 16,415,813 16,421,088 RGD:7240710
RGD:8554872
MASS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:7240710
RGD:8554872
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sobp sine oculis binding protein homolog JBrowse link 20 47,731,713 47,910,466 RGD:7240710
RGD:8554872
Multiple Epiphyseal Dysplasia with Myopia and Conductive Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
myopia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adora2a adenosine A2a receptor JBrowse link 20 14,265,251 14,282,873 RGD:13592920
G Bmp2 bone morphogenetic protein 2 JBrowse link 3 126,335,963 126,346,771 RGD:11554173
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:8554872
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 5 21,769,087 21,952,036 RGD:8554872
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8552656
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8657390
RGD:8554872
RGD:12436723
RGD:11554173
G Col9a1 collagen type IX alpha 1 chain JBrowse link 9 30,419,001 30,502,307 RGD:11554173
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Gjd2 gap junction protein, delta 2 JBrowse link 3 105,467,480 105,470,475 RGD:11554173
G Gria4 glutamate ionotropic receptor AMPA type subunit 4 JBrowse link 8 1,548,145 2,045,874 RGD:11554173
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:1642706
RGD:8548600
RGD:8548542
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8548827
RGD:8548838
RGD:8548829
RGD:8548828
G Irx5 iroquois homeobox 5 JBrowse link 19 16,415,813 16,421,088 RGD:11554173
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 JBrowse link 9 27,565,869 28,141,114 RGD:11554173
G Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 RGD:11554173
RGD:13605610
G Lrpap1 LDL receptor related protein associated protein 1 JBrowse link 14 80,911,281 80,923,290 RGD:13592920
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:8549731
G Parl presenilin associated, rhomboid-like JBrowse link 11 84,517,368 84,544,463 RGD:12902630
G Primpol primase and DNA directed polymerase JBrowse link 16 48,863,385 48,900,409 RGD:13592920
G Prss56 serine protease 56 JBrowse link 9 94,278,981 94,284,111 RGD:11554173
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 JBrowse link 8 97,277,250 97,405,095 RGD:11554173
G Rdh5 retinol dehydrogenase 5 JBrowse link 7 3,335,681 3,342,573 RGD:11554173
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:11554173
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:8554872
G Slc39a13 solute carrier family 39 member 13 JBrowse link 3 79,884,524 79,892,664 RGD:8554872
G Slc39a5 solute carrier family 39 member 5 JBrowse link 7 2,813,875 2,819,917 RGD:13592920
G Tnc tenascin C JBrowse link 5 79,789,686 79,874,555 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8554872
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:8157620
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:8554872
G Zfp644 zinc finger protein 644 JBrowse link 14 4,125,368 4,200,332 RGD:13592920
Myopia 21, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp644 zinc finger protein 644 JBrowse link 14 4,125,368 4,200,332 RGD:7240710
RGD:8554872
Myopia 22, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Primpol primase and DNA directed polymerase JBrowse link 16 48,863,385 48,900,409 RGD:8554872
RGD:7240710
Myopia 23, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrpap1 LDL receptor related protein associated protein 1 JBrowse link 14 80,911,281 80,923,290 RGD:7240710
RGD:8554872
Myopia 24, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc39a5 solute carrier family 39 member 5 JBrowse link 7 2,813,875 2,819,917 RGD:7240710
RGD:8554872
Myopia 25, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4ha2 prolyl 4-hydroxylase subunit alpha 2 JBrowse link 10 39,435,227 39,464,134 RGD:8554872
RGD:7240710
MYOPIA 26, X-LINKED, FEMALE-LIMITED term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arr3 arrestin 3 JBrowse link X 70,438,590 70,452,140 RGD:8554872
RGD:7240710
Myopia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
Myopia, High, with Cataract and Vitreoretinal Degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P3h2 prolyl 3-hydroxylase 2 JBrowse link 11 78,028,885 78,169,746 RGD:7240710
RGD:8554872
Nanophthalmos 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem98 transmembrane protein 98 JBrowse link 10 68,173,380 68,184,289 RGD:7240710
RGD:8554872
Oguchi disease-1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sag S-antigen visual arrestin JBrowse link 9 94,926,901 94,972,162 RGD:7240710
Oguchi disease-2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grk1 G protein-coupled receptor kinase 1 JBrowse link 16 81,153,489 81,165,442 RGD:8554872
RGD:7240710
strabismus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahctf1 AT hook containing transcription factor 1 JBrowse link 13 98,023,528 98,079,138 RGD:8554872
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:8699500
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
G Foxp1 forkhead box P1 JBrowse link 4 131,362,178 131,963,466 RGD:8554872
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
G Med13l mediator complex subunit 13-like JBrowse link 12 43,421,317 43,576,859 RGD:8554872
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:8554872
G Pcdh19 protocadherin 19 JBrowse link X 104,387,346 104,493,914 RGD:8554872
G Sox5 SRY box 5 JBrowse link 4 178,062,267 179,031,991 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:8554872
tarsal-carpal coalition syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf9 fibroblast growth factor 9 JBrowse link 15 38,341,657 38,386,945 RGD:8554872
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:8554872
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:7240710
RGD:8554872
RGD:12801450

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    sensory system disease 4265
      eye and adnexa disease 1995
        eye disease 1995
          refractive error 96
            Corneal Wavefront Aberration 0
            aniseikonia 0
            anisometropia 1
            astigmatism + 3
            hyperopia + 29
            myopia + 63
            presbyopia 0
            transient refractive change 0
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        sensory system disease 4265
          eye and adnexa disease 1995
            eye disease 1995
              refractive error 96
                Corneal Wavefront Aberration 0
                aniseikonia 0
                anisometropia 1
                astigmatism + 3
                hyperopia + 29
                myopia + 63
                presbyopia 0
                transient refractive change 0
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.