ONTOLOGY REPORT - ANNOTATIONS


Term:corneal dystrophy
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Accession:DOID:2566 term browser browse the term
Definition:Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.
Synonyms:exact_synonym: CORNEAL DYSTROPHY, DOMINANT/RECESSIVE;   Corneal Stromal Dystrophies;   Corneal Stromal Dystrophy;   Groenouw Dystrophies;   Groenouw's Dystrophies;   Groenouws Dystrophies;   hereditary corneal dystrophies;   hereditary corneal dystrophy
 narrow_synonym: CORNEAL DYSTROPHY, DOMINANT;   CORNEAL DYSTROPHY, RECESSIVE;   Corneal Granular Dystrophies;   Corneal Granular Dystrophy
 primary_id: MESH:D003317
 alt_id: RDO:0000435
For additional species annotation, visit the Alliance of Genome Resources.


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corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 JBrowse link 16 50,111,803 50,136,741 RGD:8554872
G Elovl4 ELOVL fatty acid elongase 4 JBrowse link 8 91,310,690 91,338,625 RGD:1598895
G Grhl2 grainyhead-like transcription factor 2 JBrowse link 7 76,058,623 76,197,360 RGD:8554872
G Kera keratocan JBrowse link 7 38,858,062 38,865,515 RGD:1600335
G Krt12 keratin 12 JBrowse link 10 87,328,547 87,336,710 RGD:1600169
G Slc4a11 solute carrier family 4 member 11 JBrowse link 3 123,224,242 123,236,535 RGD:8554872
G Tacstd2 tumor-associated calcium signal transducer 2 JBrowse link 4 98,341,187 98,342,887 RGD:1599194
RGD:8554872
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:1599387
RGD:8554872
G Vsx1 visual system homeobox 1 JBrowse link 3 146,484,235 146,494,757 RGD:1599773
RGD:11554173
RGD:8657029
G Zeb1 zinc finger E-box binding homeobox 1 JBrowse link 17 54,656,627 54,714,920 RGD:8554872
Aniridia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcdc5 doublecortin domain containing 5 JBrowse link 3 97,207,500 97,435,067 RGD:8554872
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 JBrowse link 3 96,025,388 96,065,765 RGD:8554872
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
G Immp1l inner mitochondrial membrane peptidase subunit 1 JBrowse link 3 95,955,126 96,024,316 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
G Rcn1 reticulocalbin 1 JBrowse link 3 95,404,863 95,419,110 RGD:8554872
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:8554872
Bietti crystalline corneoretinal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 JBrowse link 16 50,111,803 50,136,741 RGD:7240710
RGD:8554872
congenital hereditary endothelial dystrophy of cornea term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ovol2 ovo-like zinc finger 2 JBrowse link 3 138,433,990 138,464,511 RGD:8554872
G Slc4a11 solute carrier family 4 member 11 JBrowse link 3 123,224,242 123,236,535 RGD:7240710
RGD:8554872
G Vsx1 visual system homeobox 1 JBrowse link 3 146,484,235 146,494,757 RGD:8554872
congenital stromal corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcn decorin JBrowse link 7 38,742,250 38,782,282 RGD:7240710
RGD:8554872
Corneal Dystrophy and Perceptive Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc4a11 solute carrier family 4 member 11 JBrowse link 3 123,224,242 123,236,535 RGD:7240710
RGD:8554872
Corneal Dystrophy, Fuchs Endothelial, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tcf4 transcription factor 4 JBrowse link 18 65,285,320 65,507,983 RGD:7240710
RGD:8554872
Corneal Dystrophy, Fuchs Endothelial, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc4a11 solute carrier family 4 member 11 JBrowse link 3 123,224,242 123,236,535 RGD:7240710
RGD:8554872
Corneal Dystrophy, Fuchs Endothelial, 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zeb1 zinc finger E-box binding homeobox 1 JBrowse link 17 54,656,627 54,714,920 RGD:7240710
RGD:8554872
Corneal Dystrophy, Fuchs Endothelial, 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agbl1 ATP/GTP binding protein-like 1 JBrowse link 1 137,798,862 138,711,126 RGD:7240710
RGD:8554872
Corneal Dystrophy, Fuchs' Endothelial, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col8a2 collagen type VIII alpha 2 chain JBrowse link 5 144,308,527 144,335,142 RGD:7240710
RGD:8554872
Corneal Dystrophy, Lattice Type IIIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872
corneal endothelial dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc4a11 solute carrier family 4 member 11 JBrowse link 3 123,224,242 123,236,535 RGD:8554872
Edict Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mir184 microRNA 184 JBrowse link 8 97,175,657 97,175,733 RGD:7240710
RGD:8554872
epithelial basement membrane dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872
Epithelial Recurrent Erosion Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col17a1 collagen type XVII alpha 1 chain JBrowse link 1 267,416,681 267,465,049 RGD:8554872
RGD:7240710
Finnish type amyloidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gsn gelsolin JBrowse link 3 14,456,106 14,508,922 RGD:7240710
RGD:8554872
Fleck corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing JBrowse link 9 71,911,744 72,005,816 RGD:7240710
RGD:8554872
Fuchs' endothelial dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agbl1 ATP/GTP binding protein-like 1 JBrowse link 1 137,798,862 138,711,126 RGD:13592920
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7401271
G Cdkn1a cyclin-dependent kinase inhibitor 1A JBrowse link 20 6,348,422 6,358,864 RGD:8661808
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:8696020
RGD:8661808
G Col8a2 collagen type VIII alpha 2 chain JBrowse link 5 144,308,527 144,335,142 RGD:13592920
G Loxhd1 lipoxygenase homology domains 1 JBrowse link 18 73,645,365 73,812,271 RGD:11072687
G Slc4a11 solute carrier family 4 member 11 JBrowse link 3 123,224,242 123,236,535 RGD:13592920
G Tcf4 transcription factor 4 JBrowse link 18 65,285,320 65,507,983 RGD:13592920
G Zeb1 zinc finger E-box binding homeobox 1 JBrowse link 17 54,656,627 54,714,920 RGD:13592920
gelatinous drop-like corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:8699502
G Tacstd2 tumor-associated calcium signal transducer 2 JBrowse link 4 98,341,187 98,342,887 RGD:7240710
RGD:8554872
granular corneal dystrophy type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872
Groenouw Type I Corneal Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872
lattice corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:13592920
Lattice Corneal Dystrophy Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872
macular corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst5 carbohydrate sulfotransferase 5 JBrowse link 19 44,115,065 44,136,092 RGD:7240710
RGD:8554872
Macular Corneal Dystrophy, Type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst5 carbohydrate sulfotransferase 5 JBrowse link 19 44,115,065 44,136,092 RGD:8554872
Macular Dystrophy, Retinal, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prom1 prominin 1 JBrowse link 14 71,532,321 71,637,400 RGD:7240710
RGD:8554872
Meesmann corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt12 keratin 12 JBrowse link 10 87,328,547 87,336,710 RGD:7240710
RGD:8554872
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 JBrowse link 19 46,005,055 46,167,912 RGD:7240710
RGD:8554872
O'Donnell Pappas Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
posterior polymorphous corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ovol2 ovo-like zinc finger 2 JBrowse link 3 138,433,990 138,464,511 RGD:8554872
G Vsx1 visual system homeobox 1 JBrowse link 3 146,484,235 146,494,757 RGD:8554872
G Zeb1 zinc finger E-box binding homeobox 1 JBrowse link 17 54,656,627 54,714,920 RGD:8554872
posterior polymorphous corneal dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ovol2 ovo-like zinc finger 2 JBrowse link 3 138,433,990 138,464,511 RGD:8554872
RGD:7240710
RGD:11554173
G Vsx1 visual system homeobox 1 JBrowse link 3 146,484,235 146,494,757 RGD:8657036
RGD:8554872
G Zeb1 zinc finger E-box binding homeobox 1 JBrowse link 17 54,656,627 54,714,920 RGD:8554872
posterior polymorphous corneal dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col8a2 collagen type VIII alpha 2 chain JBrowse link 5 144,308,527 144,335,142 RGD:7240710
RGD:8554872
posterior polymorphous corneal dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zeb1 zinc finger E-box binding homeobox 1 JBrowse link 17 54,656,627 54,714,920 RGD:7240710
RGD:8554872
Posterior Polymorphous Corneal Dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grhl2 grainyhead-like transcription factor 2 JBrowse link 7 76,058,623 76,197,360 RGD:8554872
RGD:7240710
Pseudoinflammatory Fundus Dystrophy, Finnish Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syn3 synapsin III JBrowse link 7 23,403,896 23,808,602 RGD:8554872
G Timp3 TIMP metallopeptidase inhibitor 3 JBrowse link 7 23,543,125 23,594,170 RGD:8554872
Reis-Bucklers corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872
Schnyder corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:8554872
G Ubiad1 UbiA prenyltransferase domain containing 1 JBrowse link 5 165,247,630 165,259,228 RGD:7240710
RGD:8554872
Sveinsson Chorioretinal Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tead1 TEA domain transcription factor 1 JBrowse link 1 177,495,500 177,714,795 RGD:7240710
RGD:8554872
Thiel-Behnke corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbcd tubulin folding cofactor D JBrowse link 10 110,643,693 110,800,493 RGD:8554872
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    sensory system disease 4244
      eye and adnexa disease 1985
        eye disease 1985
          corneal disease 165
            corneal dystrophy 39
              Aniridia 1 7
              Bietti crystalline corneoretinal dystrophy 1
              Brachymesomelia Renal Syndrome 0
              Chorioretinal Atrophy, Progressive Bifocal 0
              Congenital Corneal Opacities, Cornea Guttata, and Corectopia 0
              Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia 0
              Corneal Cerebellar Syndrome 0
              Corneal Dystrophy and Perceptive Deafness 1
              Corneal Dystrophy, Lattice Type IIIA 1
              Corneodermatoosseous Syndrome 0
              Dermochondrocorneal Dystrophy of François 0
              Edict Syndrome 1
              Epithelial Recurrent Erosion Dystrophy 1
              Finnish type amyloidosis 1
              Fleck corneal dystrophy 1
              Groenouw Type I Corneal Dystrophy 1
              Ichthyosiform Erythroderma, Corneal Involvement, Deafness 0
              Judge Misch Wright Syndrome 0
              Kuster Majewski Hammerstein Syndrome 0
              Lisch epithelial corneal dystrophy 0
              Macular Corneal Dystrophy, Type II 1
              Macular Dystrophy, Fenestrated Sheen Type 0
              Macular Dystrophy, Retinal, 1, North Carolina Type 0
              Macular Dystrophy, Retinal, 2 1
              Meesmann corneal dystrophy 1
              Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
              Mousa Al din Al Nassar Syndrome 0
              O'Donnell Pappas Syndrome 1
              Oculodental Syndrome Rutherfurd Syndrome 0
              Pseudoinflammatory Fundus Dystrophy, Finnish Type 2
              Reis-Bucklers corneal dystrophy 1
              Ribbonlike Corneal Degeneration with Deafness 0
              Sammartino De Crecchio Syndrome 0
              Schnyder corneal dystrophy 2
              Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy 0
              Sveinsson Chorioretinal Atrophy 1
              Thiel-Behnke corneal dystrophy 2
              band keratopathy 0
              congenital stromal corneal dystrophy 1
              corneal endothelial dystrophy + 12
              epithelial and subepithelial dystrophy + 4
              epithelial-stromal TGFBI dystrophy + 2
              gelatinous drop-like corneal dystrophy 2
              macular corneal dystrophy 1
              posterior amorphous corneal dystrophy 0
              posterior polymorphous corneal dystrophy + 5
              stromal dystrophy + 5
              subepithelial mucinous corneal dystrophy 0
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          eye and adnexa disease 1985
            eye disease 1985
              Hereditary Eye Diseases 496
                corneal dystrophy 39
                  Aniridia 1 7
                  Bietti crystalline corneoretinal dystrophy 1
                  Brachymesomelia Renal Syndrome 0
                  Chorioretinal Atrophy, Progressive Bifocal 0
                  Congenital Corneal Opacities, Cornea Guttata, and Corectopia 0
                  Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia 0
                  Corneal Cerebellar Syndrome 0
                  Corneal Dystrophy and Perceptive Deafness 1
                  Corneal Dystrophy, Lattice Type IIIA 1
                  Corneodermatoosseous Syndrome 0
                  Dermochondrocorneal Dystrophy of François 0
                  Edict Syndrome 1
                  Epithelial Recurrent Erosion Dystrophy 1
                  Finnish type amyloidosis 1
                  Fleck corneal dystrophy 1
                  Groenouw Type I Corneal Dystrophy 1
                  Ichthyosiform Erythroderma, Corneal Involvement, Deafness 0
                  Judge Misch Wright Syndrome 0
                  Kuster Majewski Hammerstein Syndrome 0
                  Lisch epithelial corneal dystrophy 0
                  Macular Corneal Dystrophy, Type II 1
                  Macular Dystrophy, Fenestrated Sheen Type 0
                  Macular Dystrophy, Retinal, 1, North Carolina Type 0
                  Macular Dystrophy, Retinal, 2 1
                  Meesmann corneal dystrophy 1
                  Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
                  Mousa Al din Al Nassar Syndrome 0
                  O'Donnell Pappas Syndrome 1
                  Oculodental Syndrome Rutherfurd Syndrome 0
                  Pseudoinflammatory Fundus Dystrophy, Finnish Type 2
                  Reis-Bucklers corneal dystrophy 1
                  Ribbonlike Corneal Degeneration with Deafness 0
                  Sammartino De Crecchio Syndrome 0
                  Schnyder corneal dystrophy 2
                  Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy 0
                  Sveinsson Chorioretinal Atrophy 1
                  Thiel-Behnke corneal dystrophy 2
                  band keratopathy 0
                  congenital stromal corneal dystrophy 1
                  corneal endothelial dystrophy + 12
                  epithelial and subepithelial dystrophy + 4
                  epithelial-stromal TGFBI dystrophy + 2
                  gelatinous drop-like corneal dystrophy 2
                  macular corneal dystrophy 1
                  posterior amorphous corneal dystrophy 0
                  posterior polymorphous corneal dystrophy + 5
                  stromal dystrophy + 5
                  subepithelial mucinous corneal dystrophy 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.