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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 Elovl4 ELOVL fatty acid elongase 4 JBrowse link NW_004936510 10,246,901 10,276,049 RGD:9068941
G Grhl2 grainyhead like transcription factor 2 JBrowse link NW_004936470 41,856,683 41,961,666 RGD:9068941
G Kera keratocan JBrowse link NW_004936507 7,802,091 7,811,123 RGD:9068941
G Krt12 keratin 12 JBrowse link NW_004936490 15,820,754 15,824,611 RGD:9068941
G LOC101967774 cytochrome P450 4V2 JBrowse link NW_004936554 3,272,139 3,293,288 RGD:9068941
G Slc4a11 solute carrier family 4 member 11 JBrowse link NW_004936485 15,486,565 15,497,638 RGD:9068941
G Tacstd2 tumor associated calcium signal transducer 2 JBrowse link NW_004936522 3,206,826 3,208,675 RGD:9068941
G Tgfbi transforming growth factor beta induced JBrowse link NW_004936597 3,128,007 3,161,885 RGD:9068941
G Vsx1 visual system homeobox 1 JBrowse link NW_004936620 710,917 718,205 RGD:9068941
G Zeb1 zinc finger E-box binding homeobox 1 JBrowse link NW_004936574 17,643 175,762 RGD:9068941
Aniridia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcdc1 doublecortin domain containing 1 JBrowse link NW_004936533 6,340,591 6,434,334 RGD:9068941
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 JBrowse link NW_004936533 6,289,490 6,340,506 RGD:9068941
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link NW_004936533 5,985,873 6,216,124 RGD:9068941
G Immp1l inner mitochondrial membrane peptidase subunit 1 JBrowse link NW_004936533 6,216,254 6,289,554 RGD:9068941
G Pax6 paired box 6 JBrowse link NW_004936533 5,952,529 5,980,889 RGD:7240710
RGD:9068941
G Rcn1 reticulocalbin 1 JBrowse link NW_004936533 5,685,053 5,693,518 RGD:9068941
G Wt1 WT1 transcription factor JBrowse link NW_004936533 5,411,949 5,459,693 RGD:9068941
Bietti crystalline corneoretinal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC101967774 cytochrome P450 4V2 JBrowse link NW_004936554 3,272,139 3,293,288 RGD:7240710
RGD:9068941
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 NW_004936485 2,096,495 2,128,002 RGD:9068941
G Slc4a11 solute carrier family 4 member 11 JBrowse link NW_004936485 15,486,565 15,497,638 RGD:7240710
RGD:9068941
G Vsx1 visual system homeobox 1 JBrowse link NW_004936620 710,917 718,205 RGD:9068941
congenital stromal corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcn decorin JBrowse link NW_004936507 7,887,259 7,923,055 RGD:7240710
RGD:9068941
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 NW_004936485 15,486,565 15,497,638 RGD:7240710
RGD:9068941
Corneal Dystrophy, Fuchs Endothelial, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tcf4 transcription factor 4 JBrowse link NW_004936497 8,410,882 8,765,678 RGD:7240710
RGD:9068941
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 NW_004936485 15,486,565 15,497,638 RGD:7240710
RGD:9068941
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 NW_004936574 17,643 175,762 RGD:7240710
RGD:9068941
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 NW_004936483 12,358,731 13,056,267 RGD:7240710
RGD:9068941
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 NW_004936474 18,587,451 18,602,446 RGD:7240710
RGD:9068941
corneal endothelial dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc4a11 solute carrier family 4 member 11 JBrowse link NW_004936485 15,486,565 15,497,638 RGD:9068941
epithelial basement membrane dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor beta induced JBrowse link NW_004936597 3,128,007 3,161,885 RGD:7240710
RGD:9068941
Epithelial Recurrent Erosion Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col17a1 collagen type XVII alpha 1 chain JBrowse link NW_004936600 2,084,854 2,133,028 RGD:7240710
RGD:9068941
Finnish type amyloidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gsn gelsolin JBrowse link NW_004936487 9,749,755 9,802,787 RGD:7240710
RGD:9068941
Fleck corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing JBrowse link NW_004936950 242,071 323,204 RGD:7240710
RGD:9068941
Fuchs' endothelial dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agbl1 ATP/GTP binding protein like 1 JBrowse link NW_004936483 12,358,731 13,056,267 RGD:9068941
G C3 complement C3 JBrowse link NW_004936588 3,985,732 4,023,221 RGD:9068941
G Cdkn1a cyclin dependent kinase inhibitor 1A JBrowse link NW_004936476 22,717,308 22,725,127 RGD:9068941
G Clu clusterin JBrowse link NW_004936675 499,745 513,515 RGD:9068941
G Col8a2 collagen type VIII alpha 2 chain JBrowse link NW_004936474 18,587,451 18,602,446 RGD:9068941
G Loxhd1 lipoxygenase homology domains 1 JBrowse link NW_004936517 271,909 409,818 RGD:9068941
G Slc4a11 solute carrier family 4 member 11 JBrowse link NW_004936485 15,486,565 15,497,638 RGD:9068941
G Tcf4 transcription factor 4 JBrowse link NW_004936497 8,410,882 8,765,678 RGD:9068941
G Zeb1 zinc finger E-box binding homeobox 1 JBrowse link NW_004936574 17,643 175,762 RGD:9068941
gelatinous drop-like corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clu clusterin JBrowse link NW_004936675 499,745 513,515 RGD:9068941
G Tacstd2 tumor associated calcium signal transducer 2 JBrowse link NW_004936522 3,206,826 3,208,675 RGD:7240710
RGD:9068941
granular corneal dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor beta induced JBrowse link NW_004936597 3,128,007 3,161,885 RGD:7240710
RGD:9068941
granular corneal dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor beta induced JBrowse link NW_004936597 3,128,007 3,161,885 RGD:7240710
RGD:9068941
lattice corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor beta induced JBrowse link NW_004936597 3,128,007 3,161,885 RGD:9068941
Lattice Corneal Dystrophy Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor beta induced JBrowse link NW_004936597 3,128,007 3,161,885 RGD:7240710
RGD:9068941
Lattice Corneal Dystrophy, Type IIIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor beta induced JBrowse link NW_004936597 3,128,007 3,161,885 RGD:7240710
RGD:9068941
Macular Dystrophy, Retinal, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prom1 prominin 1 JBrowse link NW_004936477 11,878,261 12,017,228 RGD:7240710
RGD:9068941
Meesmann corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt12 keratin 12 JBrowse link NW_004936490 15,820,754 15,824,611 RGD:7240710
RGD:9068941
G Krt3 keratin 3 JBrowse link NW_004936512 10,158,984 10,165,131 RGD:7240710
RGD:9068941
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 NW_004936475 25,698,117 25,831,291 RGD:7240710
RGD:9068941
O'Donnell Pappas Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link NW_004936533 5,985,873 6,216,124 RGD:9068941
G Pax6 paired box 6 JBrowse link NW_004936533 5,952,529 5,980,889 RGD:7240710
RGD:9068941
posterior polymorphous corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ovol2 ovo like zinc finger 2 JBrowse link NW_004936485 2,096,495 2,128,002 RGD:9068941
G Vsx1 visual system homeobox 1 JBrowse link NW_004936620 710,917 718,205 RGD:9068941
G Zeb1 zinc finger E-box binding homeobox 1 JBrowse link NW_004936574 17,643 175,762 RGD:9068941
posterior polymorphous corneal dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ovol2 ovo like zinc finger 2 JBrowse link NW_004936485 2,096,495 2,128,002 RGD:7240710
RGD:9068941
G Vsx1 visual system homeobox 1 JBrowse link NW_004936620 710,917 718,205 RGD:9068941
G Zeb1 zinc finger E-box binding homeobox 1 JBrowse link NW_004936574 17,643 175,762 RGD:9068941
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 NW_004936474 18,587,451 18,602,446 RGD:7240710
RGD:9068941
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 NW_004936574 17,643 175,762 RGD:7240710
RGD:9068941
Posterior Polymorphous Corneal Dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grhl2 grainyhead like transcription factor 2 JBrowse link NW_004936470 41,856,683 41,961,666 RGD:7240710
RGD:9068941
Pseudoinflammatory Fundus Dystrophy, Finnish Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syn3 synapsin III JBrowse link NW_004936492 6,836,441 7,253,867 RGD:9068941
G Timp3 TIMP metallopeptidase inhibitor 3 JBrowse link NW_004936492 6,996,627 7,046,137 RGD:9068941
Reis-Bucklers corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor beta induced JBrowse link NW_004936597 3,128,007 3,161,885 RGD:7240710
RGD:9068941
Schnyder corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtor mechanistic target of rapamycin kinase JBrowse link NW_004936474 158,376 282,310 RGD:9068941
G Ubiad1 UbiA prenyltransferase domain containing 1 JBrowse link NW_004936474 284,630 293,090 RGD:7240710
RGD:9068941
Sveinsson chorioretinal atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tead1 TEA domain transcription factor 1 JBrowse link NW_004936528 5,607,993 5,774,161 RGD:7240710
RGD:9068941
Thiel-Behnke corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbcd tubulin folding cofactor D JBrowse link NW_004936923 239,029 366,503 RGD:9068941
G Tgfbi transforming growth factor beta induced JBrowse link NW_004936597 3,128,007 3,161,885 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11383
    sensory system disease 4194
      eye and adnexa disease 2066
        eye disease 2066
          corneal disease 156
            corneal dystrophy 38
              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
              Corneodermatoosseous Syndrome 0
              Dermochondrocorneal Dystrophy of François 0
              Edict Syndrome 0
              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 0
              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 0
              posterior amorphous corneal dystrophy 0
              posterior polymorphous corneal dystrophy + 5
              stromal dystrophy + 4
              subepithelial mucinous corneal dystrophy 0
Path 2
Term Annotations click to browse term
  disease 11383
    disease of anatomical entity 11051
      nervous system disease 8895
        sensory system disease 4194
          eye and adnexa disease 2066
            eye disease 2066
              Hereditary Eye Diseases 471
                corneal dystrophy 38
                  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
                  Corneodermatoosseous Syndrome 0
                  Dermochondrocorneal Dystrophy of François 0
                  Edict Syndrome 0
                  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 0
                  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 0
                  posterior amorphous corneal dystrophy 0
                  posterior polymorphous corneal dystrophy + 5
                  stromal dystrophy + 4
                  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.