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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
 xref: ICD9CM:371.5;   ICD9CM:371.50;   NCI:C34512;   NCI:C34513
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 CYP4V2 cytochrome P450 family 4 subfamily V member 2 JBrowse link 4 186,191,567 186,213,463 RGD:8554872
G ELOVL4 ELOVL fatty acid elongase 4 JBrowse link 6 79,914,814 79,947,553 RGD:1598895
G GRHL2 grainyhead like transcription factor 2 JBrowse link 8 101,492,439 101,678,104 RGD:8554872
G KERA keratocan JBrowse link 12 91,050,491 91,058,354 RGD:1600335
G KRT12 keratin 12 JBrowse link 17 40,861,303 40,867,223 RGD:1600169
G SLC4A11 solute carrier family 4 member 11 JBrowse link 20 3,227,417 3,241,484 RGD:8554872
G TACSTD2 tumor associated calcium signal transducer 2 JBrowse link 1 58,575,433 58,577,252 RGD:1599194
RGD:8554872
G TGFBI transforming growth factor beta induced JBrowse link 5 136,028,988 136,063,818 RGD:1599387
RGD:8554872
G VSX1 visual system homeobox 1 JBrowse link 20 25,069,940 25,082,379 RGD:1599773
RGD:11554173
RGD:8657029
G ZEB1 zinc finger E-box binding homeobox 1 JBrowse link 10 31,318,417 31,529,814 RGD:8554872
Aniridia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCDC1 doublecortin domain containing 1 JBrowse link 11 30,863,603 31,369,810 RGD:8554872
G DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 JBrowse link 11 31,369,840 31,432,835 RGD:8554872
G ELP4 elongator acetyltransferase complex subunit 4 JBrowse link 11 31,509,767 31,790,324 RGD:8554872
G IMMP1L inner mitochondrial membrane peptidase subunit 1 JBrowse link 11 31,432,401 31,509,644 RGD:8554872
G PAX6 paired box 6 JBrowse link 11 31,784,792 31,817,961 RGD:8554872
RGD:7240710
G PAX6-AS1 PAX6 antisense RNA 1 JBrowse link 11 31,816,566 31,887,041 RGD:8554872
G RCN1 reticulocalbin 1 JBrowse link 11 32,091,074 32,105,770 RGD:8554872
G WT1 WT1 transcription factor JBrowse link 11 32,387,775 32,435,539 RGD:8554872
Bietti crystalline corneoretinal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA4 ATP binding cassette subfamily A member 4 JBrowse link 1 93,992,834 94,121,148 RGD:8554872
G CYP4V2 cytochrome P450 family 4 subfamily V member 2 JBrowse link 4 186,191,567 186,213,463 RGD:8554872
RGD:7240710
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 20 18,024,152 18,059,188 RGD:8554872
G SLC4A11 solute carrier family 4 member 11 JBrowse link 20 3,227,417 3,241,484 RGD:8554872
RGD:7240710
G VSX1 visual system homeobox 1 JBrowse link 20 25,069,940 25,082,379 RGD:8554872
congenital stromal corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCN decorin JBrowse link 12 91,140,484 91,182,817 RGD:8554872
RGD:7240710
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 20 3,227,417 3,241,484 RGD:8554872
RGD:7240710
Corneal Dystrophy, Fuchs Endothelial, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TCF4 transcription factor 4 JBrowse link 18 55,222,185 55,635,957 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 20 3,227,417 3,241,484 RGD:8554872
RGD:7240710
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 10 31,318,417 31,529,814 RGD:8554872
RGD:7240710
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 15 86,079,620 87,031,476 RGD:8554872
RGD:7240710
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 1 36,095,239 36,126,207 RGD:8554872
RGD:7240710
corneal endothelial dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC4A11 solute carrier family 4 member 11 JBrowse link 20 3,227,417 3,241,484 RGD:8554872
Edict Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MIR184 microRNA 184 JBrowse link 15 79,209,788 79,209,871 RGD:8554872
RGD:7240710
epithelial basement membrane dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TGFBI transforming growth factor beta induced JBrowse link 5 136,028,988 136,063,818 RGD:8554872
RGD:7240710
Epithelial Recurrent Erosion Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL17A1 collagen type XVII alpha 1 chain JBrowse link 10 104,031,286 104,085,880 RGD:8554872
RGD:7240710
Finnish type amyloidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GSN gelsolin JBrowse link 9 121,201,483 121,332,844 RGD:8554872
RGD:7240710
Fleck corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing JBrowse link 2 208,266,178 208,358,747 RGD:8554872
RGD:7240710
Fuchs' endothelial dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGBL1 ATP/GTP binding protein like 1 JBrowse link 15 86,079,620 87,031,476 RGD:13592920
G C3 complement C3 JBrowse link 19 6,677,704 6,720,650 RGD:7401271
G CDKN1A cyclin dependent kinase inhibitor 1A JBrowse link 6 36,676,250 36,687,339 RGD:8661808
G CLU clusterin JBrowse link 8 27,596,917 27,615,031 RGD:8696020
RGD:8661808
G COL8A2 collagen type VIII alpha 2 chain JBrowse link 1 36,095,239 36,126,207 RGD:13592920
G LOXHD1 lipoxygenase homology domains 1 JBrowse link 18 46,476,961 46,657,115 RGD:11072687
G SLC4A11 solute carrier family 4 member 11 JBrowse link 20 3,227,417 3,241,484 RGD:13592920
G TCF4 transcription factor 4 JBrowse link 18 55,222,185 55,635,957 RGD:13592920
G ZEB1 zinc finger E-box binding homeobox 1 JBrowse link 10 31,318,417 31,529,814 RGD:13592920
gelatinous drop-like corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLU clusterin JBrowse link 8 27,596,917 27,615,031 RGD:8699502
G TACSTD2 tumor associated calcium signal transducer 2 JBrowse link 1 58,575,433 58,577,252 RGD:8554872
RGD:7240710
granular corneal dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TGFBI transforming growth factor beta induced JBrowse link 5 136,028,988 136,063,818 RGD:8554872
RGD:7240710
granular corneal dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TGFBI transforming growth factor beta induced JBrowse link 5 136,028,988 136,063,818 RGD:8554872
RGD:7240710
lattice corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TGFBI transforming growth factor beta induced JBrowse link 5 136,028,988 136,063,818 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 5 136,028,988 136,063,818 RGD:8554872
RGD:7240710
Lattice Corneal Dystrophy, Type IIIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TGFBI transforming growth factor beta induced JBrowse link 5 136,028,988 136,063,818 RGD:7240710
RGD:8554872
macular corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHST6 carbohydrate sulfotransferase 6 JBrowse link 16 75,472,042 75,495,441 RGD:8554872
RGD:7240710
Macular Corneal Dystrophy, Type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHST6 carbohydrate sulfotransferase 6 JBrowse link 16 75,472,042 75,495,441 RGD:8554872
Macular Dystrophy, Retinal, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PROM1 prominin 1 JBrowse link 4 15,968,226 16,084,059 RGD:7240710
RGD:8554872
Meesmann corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT12 keratin 12 JBrowse link 17 40,861,303 40,867,223 RGD:8554872
RGD:7240710
G KRT3 keratin 3 JBrowse link 12 52,789,685 52,805,735 RGD:8554872
RGD:7240710
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 16 77,282,128 77,435,034 RGD:8554872
RGD:7240710
O'Donnell Pappas Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELP4 elongator acetyltransferase complex subunit 4 JBrowse link 11 31,509,767 31,790,324 RGD:8554872
G PAX6 paired box 6 JBrowse link 11 31,784,792 31,817,961 RGD:8554872
RGD:7240710
posterior polymorphous corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OVOL2 ovo like zinc finger 2 JBrowse link 20 18,024,152 18,059,188 RGD:8554872
G VSX1 visual system homeobox 1 JBrowse link 20 25,069,940 25,082,379 RGD:8554872
G ZEB1 zinc finger E-box binding homeobox 1 JBrowse link 10 31,318,417 31,529,814 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 20 18,024,152 18,059,188 RGD:8554872
RGD:7240710
RGD:11554173
G VSX1 visual system homeobox 1 JBrowse link 20 25,069,940 25,082,379 RGD:8657036
RGD:8554872
G ZEB1 zinc finger E-box binding homeobox 1 JBrowse link 10 31,318,417 31,529,814 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 1 36,095,239 36,126,207 RGD:8554872
RGD:7240710
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 10 31,318,417 31,529,814 RGD:8554872
RGD:7240710
Posterior Polymorphous Corneal Dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GRHL2 grainyhead like transcription factor 2 JBrowse link 8 101,492,439 101,678,104 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 22 32,507,820 33,058,381 RGD:8554872
G TIMP3 TIMP metallopeptidase inhibitor 3 JBrowse link 22 32,800,816 32,863,041 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 5 136,028,988 136,063,818 RGD:8554872
RGD:7240710
Schnyder corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MTOR mechanistic target of rapamycin kinase JBrowse link 1 11,106,535 11,273,497 RGD:8554872
G UBIAD1 UbiA prenyltransferase domain containing 1 JBrowse link 1 11,273,198 11,299,572 RGD:8554872
RGD:7240710
Sveinsson chorioretinal atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TEAD1 TEA domain transcription factor 1 JBrowse link 11 12,674,421 12,944,737 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 17 82,752,048 82,945,914 RGD:8554872
G TGFBI transforming growth factor beta induced JBrowse link 5 136,028,988 136,063,818 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16450
    sensory system disease 4911
      eye and adnexa disease 2418
        eye disease 2418
          corneal disease 177
            corneal dystrophy 42
              Aniridia 1 8
              Bietti crystalline corneoretinal dystrophy 2
              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
              Corneodermatoosseous Syndrome 0
              Dermochondrocorneal Dystrophy of François 0
              Edict Syndrome 1
              Epithelial Recurrent Erosion Dystrophy 1
              Fleck 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 2
              Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
              Mousa Al din Al Nassar Syndrome 0
              O'Donnell Pappas Syndrome 2
              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
              band keratopathy 0
              congenital stromal corneal dystrophy 1
              corneal endothelial dystrophy + 12
              epithelial and subepithelial dystrophy + 5
              epithelial-stromal TGFBI dystrophy + 5
              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 16450
    disease of anatomical entity 15425
      nervous system disease 11699
        sensory system disease 4911
          eye and adnexa disease 2418
            eye disease 2418
              Hereditary Eye Diseases 557
                corneal dystrophy 42
                  Aniridia 1 8
                  Bietti crystalline corneoretinal dystrophy 2
                  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
                  Corneodermatoosseous Syndrome 0
                  Dermochondrocorneal Dystrophy of François 0
                  Edict Syndrome 1
                  Epithelial Recurrent Erosion Dystrophy 1
                  Fleck 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 2
                  Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
                  Mousa Al din Al Nassar Syndrome 0
                  O'Donnell Pappas Syndrome 2
                  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
                  band keratopathy 0
                  congenital stromal corneal dystrophy 1
                  corneal endothelial dystrophy + 12
                  epithelial and subepithelial dystrophy + 5
                  epithelial-stromal TGFBI dystrophy + 5
                  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.