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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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;   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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Corneal Dystrophy, Recessive
ClinVar Annotator: match by term: Corneal dystrophy
ClinVar PMID:15042513 PMID:15937078 PMID:23221965 PMID:24480711 PMID:25741868 More... NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395
JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO RGD PMID:11726641 RGD:1598895 NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697
JBrowse link
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: Corneal dystrophy ClinVar PMID:29499165 NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258
JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Corneal dystrophy ClinVar NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Kera keratocan ISO autosomal recessive cornea plana, OMIM:217300 RGD PMID:10802664 RGD:1600335 NCBI chr 7:32,397,382...32,404,837
Ensembl chr 7:32,397,382...32,404,837
JBrowse link
G Krt12 keratin 12 susceptibility ISO protein:mutations: ; V143L, R135T; Meesmann's corneal dystrophy, OMIM:122100 RGD PMID:9171831 RGD:1600169 NCBI chr10:84,370,803...84,378,075
Ensembl chr10:84,370,883...84,378,045
JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Corneal Dystrophy, Recessive
ClinVar Annotator: match by term: Corneal dystrophy
ClinVar PMID:18024964 PMID:18363173 PMID:20144242 PMID:20848555 PMID:23585771 More... NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
JBrowse link
G Tacstd2 tumor-associated calcium signal transducer 2 ISO gelatinous drop-like corneal dystrophy
ClinVar Annotator: match by term: Corneal Dystrophy, Dominant/Recessive
ClinVar
RGD
PMID:10192395 RGD:1599194 NCBI chr 4:96,707,950...96,709,650
Ensembl chr 4:96,707,951...96,709,650
JBrowse link
G Tgfbi transforming growth factor, beta induced ISO
ISS
granular dystrophy Groenouw type I, OMIM:121900, Thiel-Behnke corneal dystrophy, OMIM:602082, lattice corneal dystrophy type I , OMIM:122200, and Avellino corneal dystrophy OMIM:607541
ClinVar Annotator: match by term: Corneal dystrophy
ClinVar Annotator: match by term: Corneal Dystrophy, Dominant
ClinVar
MouseDO
RGD
PMID:9497262 PMID:11004271 PMID:11024425 PMID:11923233 PMID:12400061 More... RGD:1599387 NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
G Vsx1 visual system homeobox 1 ISO KTCN1, OMIM:148300, PPCD1, OMIM:122000
CTD Direct Evidence: marker/mechanism
associated with Craniofacial Abnormalities;DNA:missense mutations:cds:p.A256S, p.R131S (human)
CTD
RGD
PMID:11978762 PMID:11978762 PMID:15051220 RGD:1599773, RGD:8657029 NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869
JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO ClinVar Annotator: match by term: Corneal dystrophy ClinVar PMID:25741868 NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
JBrowse link
Aniridia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc5 doublecortin domain containing 5 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 More... NCBI chr 3:92,718,047...92,896,696
Ensembl chr 3:92,718,047...92,896,542
JBrowse link
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 More... NCBI chr 3:92,450,631...92,486,004
Ensembl chr 3:92,450,639...92,485,901
JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:11309364 PMID:11431688 PMID:12552561 More... NCBI chr 3:92,162,271...92,385,251 JBrowse link
G Immp1l inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 More... NCBI chr 3:92,385,329...92,450,557
Ensembl chr 3:92,385,379...92,452,313
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Aniridia 1
ClinVar Annotator: match by term: Cataracts, congenital, with late-onset corneal dystrophy
OMIM
ClinVar
PMID:1251879 PMID:1302030 PMID:1345175 PMID:1954207 PMID:6988567 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Rcn1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:91,841,052...91,855,295
Ensembl chr 3:91,841,052...91,855,295
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:8975729 PMID:9090524 PMID:15150775 PMID:17630404 PMID:23349334 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
Bietti crystalline corneoretinal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy ClinVar PMID:9054934 PMID:10958761 PMID:23755871 PMID:24938718 PMID:25312043 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy
ClinVar Annotator: match by term: Bietti Crystalline Dystrophy
ClinVar Annotator: match by OMIM:210370
OMIM
ClinVar
PMID:15042513 PMID:15937078 PMID:16179904 PMID:17962476 PMID:18398705 More... NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395
JBrowse link
congenital hereditary endothelial dystrophy of cornea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of the cornea OMIM
ClinVar
PMID:9536098 PMID:16767101 PMID:16825429 PMID:17220209 PMID:17576681 More... NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
JBrowse link
G Vsx1 visual system homeobox 1 ISO ClinVar Annotator: match by term: CORNEAL DYSTROPHY, CONGENITAL HEREDITARY ENDOTHELIAL ClinVar PMID:7795607 PMID:11978762 PMID:15623752 PMID:16303937 PMID:19763142 More... NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869
JBrowse link
congenital stromal corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcn decorin ISO ClinVar Annotator: match by term: Congenital Stromal Corneal Dystrophy
ClinVar Annotator: match by OMIM:610048
OMIM
ClinVar
PMID:5304426 PMID:11805522 PMID:15671264 PMID:16935612 PMID:21993463 More... NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270
JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 3 OMIM
ClinVar
PMID:18728071 PMID:25741868 NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425
JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 4
ClinVar Annotator: match by OMIM:613268
OMIM
ClinVar
PMID:16767101 PMID:25741868 NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zeb1 zinc finger E-box binding homeobox 1 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 6
ClinVar Annotator: match by term: Corneal dystrophy, fuchs endothelial, 6
ClinVar Annotator: match by OMIM:613270
OMIM
ClinVar
PMID:20036349 PMID:25741868 PMID:26622166 PMID:28492532 NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agbl1 AGBL carboxypeptidase 1 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 8
ClinVar Annotator: match by OMIM:615523
OMIM
ClinVar
PMID:24094747 PMID:25741868 NCBI chr 1:130,043,914...130,950,739
Ensembl chr 1:130,043,970...130,951,638
JBrowse link
Corneal Dystrophy, Fuchs' Endothelial, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col8a2 collagen type VIII alpha 2 chain ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial 1
ClinVar Annotator: match by OMIM:136800
OMIM
ClinVar
PMID:399801 PMID:11689488 PMID:15914606 PMID:18024822 PMID:22002996 More... NCBI chr 5:138,586,201...138,613,627
Ensembl chr 5:138,585,999...138,612,850
JBrowse link
corneal dystrophy-perceptive deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Corneal dystrophy-perceptive deafness syndrome
ClinVar Annotator: match by term: Corneal dystrophy and perceptive deafness
ClinVar Annotator: match by OMIM:217400
OMIM
ClinVar
PMID:16767101 PMID:16825429 PMID:17220209 PMID:17679935 PMID:18024964 More... NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
JBrowse link
EDICT Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir184 microRNA 184 ISO ClinVar Annotator: match by This custom term has been created by RGD curators. OMIM
ClinVar
PMID:11874753 PMID:14638698 PMID:21996275 PMID:22131394 NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210
JBrowse link
epithelial basement membrane dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Map-dot-fingerprint dystrophy of cornea
ClinVar Annotator: match by OMIM:121820
OMIM
ClinVar
PMID:16652336 PMID:19337156 PMID:25525159 NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
epithelial recurrent erosion dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Epithelial recurrent erosion dystrophy ClinVar
OMIM
PMID:2663347 PMID:14562173 PMID:19710953 PMID:25676728 PMID:25741868 More... NCBI chr 1:246,530,589...246,577,632
Ensembl chr 1:246,531,367...246,577,632
JBrowse link
Finnish type amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin ISO ClinVar Annotator: match by term: Meretoja syndrome
ClinVar Annotator: match by OMIM:105120
OMIM
ClinVar
PMID:1311149 PMID:1315718 PMID:1322359 PMID:1322360 PMID:1652889 More... NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
JBrowse link
Fleck corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing ISO ClinVar Annotator: match by term: Fleck corneal dystrophy
ClinVar Annotator: match by OMIM:121850
OMIM
ClinVar
PMID:15902656 PMID:18558518 PMID:23288988 PMID:25741868 PMID:26396486 More... NCBI chr 9:66,563,747...66,657,873
Ensembl chr 9:66,563,727...66,657,868
JBrowse link
Fuchs' endothelial dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agbl1 AGBL carboxypeptidase 1 ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr 1:130,043,914...130,950,739
Ensembl chr 1:130,043,970...130,951,638
JBrowse link
G C3 complement C3 ISO protein:decreased expression:aqueous humour RGD PMID:21139973 RGD:7401271 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:nucleus:
mRNA,protein:increased expression:cornea,nucleus:
RGD PMID:22956607 PMID:22956607 RGD:8661808, RGD:8661808 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Clu clusterin ISO RGD PMID:18378577 PMID:22956607 RGD:8696020, RGD:8661808 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Col8a2 collagen type VIII alpha 2 chain ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr 5:138,586,201...138,613,627
Ensembl chr 5:138,585,999...138,612,850
JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO DNA:missense mutations: :multiple RGD PMID:22341973 RGD:11072687 NCBI chr18:70,818,276...70,969,983
Ensembl chr18:70,818,276...70,969,983
JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
JBrowse link
G Tcf4 transcription factor 4 ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425
JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
JBrowse link
gelatinous drop-like corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO RGD PMID:10502582 RGD:8699502 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Tacstd2 tumor-associated calcium signal transducer 2 ISO ClinVar Annotator: match by term: Lattice corneal dystrophy Type III
ClinVar Annotator: match by OMIM:204870
OMIM
ClinVar
PMID:10192395 PMID:12107443 PMID:15652848 PMID:28492532 NCBI chr 4:96,707,950...96,709,650
Ensembl chr 4:96,707,951...96,709,650
JBrowse link
granular corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Granular corneal dystrophy ClinVar NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
granular corneal dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Groenouw corneal dystrophy type I OMIM
ClinVar
PMID:9054935 PMID:9727509 PMID:11923233 PMID:25741868 NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
granular corneal dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Avellino corneal dystrophy
ClinVar Annotator: match by term: GRANULAR CORNEAL DYSTROPHY, TYPE II
OMIM
ClinVar
PMID:9054935 PMID:9780098 PMID:9930165 PMID:15059726 PMID:16606891 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
Ichthyosiform Erythroderma, Corneal Involvement, Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISO ClinVar Annotator: match by term: Autosomal recessive keratitis-ichthyosis-deafness syndrome ClinVar
OMIM
PMID:25741868 PMID:31630788 PMID:31630791 NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
JBrowse link
lattice corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISS OMIM:122200 MouseDO NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
Lattice Corneal Dystrophy Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Lattice corneal dystrophy Type I OMIM
ClinVar
PMID:9054935 PMID:9559741 PMID:25741868 NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
Lattice Corneal Dystrophy, Type IIIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Lattice corneal dystrophy type 3A OMIM
ClinVar
PMID:9497262 PMID:11004271 PMID:11024425 PMID:11923233 PMID:12400061 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
macular corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst5 carbohydrate sulfotransferase 5 ISO ClinVar Annotator: match by term: Macular corneal dystrophy
ClinVar Annotator: match by term: Macular corneal dystrophy Type I
ClinVar Annotator: match by OMIM:217800
OMIM
ClinVar
PMID:11017086 PMID:11278593 PMID:11818380 PMID:12824236 PMID:12882775 More... NCBI chr19:39,860,729...39,881,019
Ensembl chr19:39,860,501...39,881,064
JBrowse link
Meesmann corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt12 keratin 12 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:84,370,803...84,378,075
Ensembl chr10:84,370,883...84,378,045
JBrowse link
Meesmann corneal dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt12 keratin 12 ISO ClinVar Annotator: match by term: Meesmann corneal dystrophy 1 ClinVar
OMIM
PMID:9171831 PMID:9399908 PMID:10644419 PMID:22174841 PMID:25741868 NCBI chr10:84,370,803...84,378,075
Ensembl chr10:84,370,883...84,378,045
JBrowse link
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 ISO ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus
ClinVar Annotator: match by OMIM:615458
OMIM
ClinVar
PMID:22686506 PMID:23818446 PMID:28492532 NCBI chr19:41,686,951...41,840,035
Ensembl chr19:41,688,617...41,839,781
JBrowse link
O'Donnell Pappas Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT
ClinVar PMID:28492532 NCBI chr 3:92,162,271...92,385,251 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT
ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome
ClinVar Annotator: match by term: Foveal hypoplasia 1 with cataract
ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies
ClinVar Annotator: match by OMIM:136520
OMIM
ClinVar
PMID:8640214 PMID:9727514 PMID:9931324 PMID:10441571 PMID:12868034 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
posterior polymorphous corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vsx1 visual system homeobox 1 ISO ClinVar Annotator: match by term: Posterior Polymorphous Corneal Dystrophy
ClinVar Annotator: match by term: Polymorphous posterior corneal dystrophy
ClinVar PMID:7795607 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 More... NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869
JBrowse link
posterior polymorphous corneal dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ovol2 ovo-like zinc finger 2 ISO ClinVar Annotator: match by term: POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:4900143 PMID:16303937 PMID:23049806 PMID:26749309 NCBI chr 3:131,677,388...131,707,844
Ensembl chr 3:131,677,391...131,708,359
JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 ClinVar PMID:25182519 PMID:28492532 NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
JBrowse link
G Vsx1 visual system homeobox 1 ISO DNA:missense mutation:cds:p.H244R (human)
ClinVar Annotator: match by term: MAUMENEE CORNEAL DYSTROPHY
ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1
ClinVar
RGD
PMID:7795607 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 More... RGD:8657036 NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869
JBrowse link
posterior polymorphous corneal dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col8a2 collagen type VIII alpha 2 chain ISO ClinVar Annotator: match by term: Corneal dystrophy, posterior polymorphous, 2
ClinVar Annotator: match by OMIM:609140
OMIM
ClinVar
PMID:399801 PMID:11689488 PMID:15914606 PMID:18024822 PMID:22002996 More... NCBI chr 5:138,586,201...138,613,627
Ensembl chr 5:138,585,999...138,612,850
JBrowse link
posterior polymorphous corneal dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zeb1 zinc finger E-box binding homeobox 1 ISO ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 3
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:12654361 PMID:16252232 PMID:25741868 NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
JBrowse link
posterior polymorphous corneal dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4
ClinVar Annotator: match by term: Corneal dystrophy, posterior polymorphous 4
ClinVar
OMIM
PMID:25741868 PMID:29499165 NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258
JBrowse link
Reis-Bucklers corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by OMIM:608470 OMIM
ClinVar
PMID:9780098 PMID:9930165 PMID:10660331 PMID:11146721 PMID:15885785 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
Schnyder corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Schnyder crystalline corneal dystrophy ClinVar NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Schnyder crystalline corneal dystrophy
ClinVar Annotator: match by OMIM:121800
OMIM
ClinVar
PMID:3486394 PMID:8190477 PMID:9450854 PMID:15034782 PMID:17668063 More... NCBI chr 5:158,856,582...158,880,490
Ensembl chr 5:158,868,672...158,880,271
JBrowse link
spondylometaphyseal dysplasia with corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcb3 phospholipase C beta 3 ISO OMIM NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228
JBrowse link
Sveinsson chorioretinal atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Sveinsson chorioretinal atrophy ClinVar PMID:25741868 NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442
JBrowse link
G Tead1 TEA domain transcription factor 1 ISO ClinVar Annotator: match by term: Sveinsson chorioretinal atrophy
ClinVar Annotator: match by term: Sveinsson choreoretinal atrophy
OMIM
ClinVar
PMID:15016762 PMID:17689488 PMID:28492532 NCBI chr 1:166,791,900...167,010,591
Ensembl chr 1:166,792,628...167,003,369
JBrowse link
Thiel-Behnke corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbcd tubulin folding cofactor D ISO ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy ClinVar PMID:25741868 NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122
JBrowse link
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy OMIM
ClinVar
PMID:9054935 PMID:9780098 PMID:11923233 PMID:22355247 PMID:25741868 NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    sensory system disease 5678
      eye disease 2765
        corneal disease 197
          corneal dystrophy 41
            Aniridia 1 7
            Bietti crystalline corneoretinal dystrophy 2
            Brachymesomelia Renal Syndrome 0
            Congenital Corneal Opacities, Cornea Guttata, and Corectopia 0
            Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia 0
            Corneal Cerebellar Syndrome 0
            Corneodermatoosseous Syndrome 0
            Dermochondrocorneal Dystrophy of François 0
            EDICT Syndrome 1
            Ichthyosiform Erythroderma, Corneal Involvement, Deafness 1
            Judge Misch Wright Syndrome 0
            Kuster Majewski Hammerstein Syndrome 0
            Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
            Mousa Al din Al Nassar Syndrome 0
            O'Donnell Pappas Syndrome 2
            Oculodental Syndrome Rutherfurd Syndrome 0
            Progressive Bifocal Chorioretinal Atrophy 0
            Reis-Bucklers corneal dystrophy 1
            Ribbonlike Corneal Degeneration with Deafness 0
            Sammartino De Crecchio Syndrome 0
            Sveinsson chorioretinal atrophy 2
            band keratopathy 0
            corneal dystrophy-perceptive deafness syndrome 1
            corneal endothelial dystrophy + 10
            epithelial and subepithelial dystrophy + 5
            epithelial-stromal TGFBI dystrophy + 5
            posterior polymorphous corneal dystrophy + 6
            spondyloepiphyseal dysplasia with punctate corneal dystrophy 0
            spondylometaphyseal dysplasia with corneal dystrophy 1
            stromal dystrophy + 5
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        sensory system disease 5678
          eye disease 2765
            Hereditary Eye Diseases 639
              corneal dystrophy 41
                Aniridia 1 7
                Bietti crystalline corneoretinal dystrophy 2
                Brachymesomelia Renal Syndrome 0
                Congenital Corneal Opacities, Cornea Guttata, and Corectopia 0
                Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia 0
                Corneal Cerebellar Syndrome 0
                Corneodermatoosseous Syndrome 0
                Dermochondrocorneal Dystrophy of François 0
                EDICT Syndrome 1
                Ichthyosiform Erythroderma, Corneal Involvement, Deafness 1
                Judge Misch Wright Syndrome 0
                Kuster Majewski Hammerstein Syndrome 0
                Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
                Mousa Al din Al Nassar Syndrome 0
                O'Donnell Pappas Syndrome 2
                Oculodental Syndrome Rutherfurd Syndrome 0
                Progressive Bifocal Chorioretinal Atrophy 0
                Reis-Bucklers corneal dystrophy 1
                Ribbonlike Corneal Degeneration with Deafness 0
                Sammartino De Crecchio Syndrome 0
                Sveinsson chorioretinal atrophy 2
                band keratopathy 0
                corneal dystrophy-perceptive deafness syndrome 1
                corneal endothelial dystrophy + 10
                epithelial and subepithelial dystrophy + 5
                epithelial-stromal TGFBI dystrophy + 5
                posterior polymorphous corneal dystrophy + 6
                spondyloepiphyseal dysplasia with punctate corneal dystrophy 0
                spondylometaphyseal dysplasia with corneal dystrophy 1
                stromal dystrophy + 5
paths to the root