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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.


show annotations for term's descendants           Sort by:
 
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, PMID:28492532 NCBI chr16:50,111,803...50,136,741
Ensembl chr16:50,111,306...50,136,727
JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO RGD PMID:11726641 RGD:1598895 NCBI chr 8:91,310,690...91,338,625
Ensembl chr 8:91,310,630...91,338,843
JBrowse link
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: Corneal dystrophy ClinVar PMID:29499165 NCBI chr 7:76,058,623...76,197,360
Ensembl chr 7:76,059,386...76,197,856
JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Corneal dystrophy ClinVar NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
G Kera keratocan ISO autosomal recessive cornea plana, OMIM:217300 RGD PMID:10802664 RGD:1600335 NCBI chr 7:38,858,062...38,865,515
Ensembl chr 7:38,858,062...38,865,515
JBrowse link
G Krt12 keratin 12 susceptibility ISO protein:mutations: ; V143L, R135T; Meesmann's corneal dystrophy, OMIM:122100 RGD PMID:9171831 RGD:1600169 NCBI chr10:87,328,547...87,336,710
Ensembl chr10:87,328,549...87,335,823
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, PMID:23922488, PMID:24348007, PMID:25182519, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:123,224,242...123,236,535
Ensembl chr 3:123,224,242...123,236,535
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 PMID:10192395 RGD:1599194 NCBI chr 4:98,341,187...98,342,887
Ensembl chr 4:98,341,188...98,342,887
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
PMID:9497262, PMID:11004271, PMID:11024425, PMID:11923233, PMID:12400061, PMID:15177960, PMID:16652336, PMID:16670477, PMID:16809844, PMID:19303004, PMID:19337156, PMID:21462384, PMID:21617751, PMID:21744490, PMID:23884333, PMID:24406863, PMID:24940934, PMID:25284770, PMID:25525159, PMID:25741868, PMID:25932442, PMID:26748743, PMID:26961680, PMID:28492532, PMID:9054935 RGD:1599387 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
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 PMID:11978762, PMID:11978762, PMID:15051220 RGD:1599773, RGD:8657029 NCBI chr 3:146,484,235...146,494,757
Ensembl chr 3:146,484,238...146,491,837
JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO ClinVar Annotator: match by term: Corneal dystrophy ClinVar PMID:25741868 NCBI chr17:54,656,627...54,714,920
Ensembl chr17:54,658,463...54,714,914
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:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr 3:97,207,500...97,435,067
Ensembl chr 3:97,256,881...97,433,651
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:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr 3:96,025,388...96,065,765
Ensembl chr 3:96,025,396...96,065,711
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, PMID:12731001, PMID:16098226, PMID:17630404, PMID:18483559, PMID:24138039, PMID:24290376, PMID:25741868, PMID:26661695, PMID:27124303, PMID:27431685, PMID:28321846, PMID:28492532, PMID:29618921 NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Immp1l inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978, PMID:11284764, PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr 3:95,955,126...96,024,316
Ensembl chr 3:95,959,703...96,024,836
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:1954207, PMID:6988567, PMID:7550230, PMID:7666404, PMID:7951315, PMID:8111279, PMID:8111379, PMID:8364574, PMID:8640214, PMID:8689689, PMID:9138149, PMID:9281415, PMID:9482572, PMID:9651515, PMID:9727514, PMID:9792406, PMID:9931324, PMID:10234503, PMID:10412187, PMID:10737978, PMID:10887930, PMID:11284764, PMID:11309364, PMID:11431688, PMID:11479730, PMID:11553050, PMID:11826019, PMID:12015275, PMID:12552561, PMID:12634864, PMID:12721955, PMID:12731001, PMID:12868034, PMID:14561779, PMID:14744876, PMID:15086958, PMID:15579687, PMID:15846561, PMID:15889018, PMID:16098226, PMID:16493447, PMID:16712695, PMID:17148041, PMID:17406642, PMID:17417613, PMID:17568989, PMID:17595013, PMID:17630404, PMID:18241071, PMID:18483559, PMID:18776953, PMID:19218613, PMID:19862335, PMID:19876904, PMID:19898691, PMID:20054790, PMID:20577777, PMID:21397818, PMID:21423868, PMID:21848007, PMID:21850189, PMID:22171686, PMID:22361317, PMID:22509105, PMID:22692063, PMID:23734086, PMID:23761016, PMID:24138039, PMID:24390526, PMID:24737507, PMID:25678763, PMID:25741868, PMID:26010655, PMID:26535646, PMID:26661695, PMID:26694549, PMID:26849621, PMID:27081502, PMID:27081561, PMID:27124303, PMID:27307692, PMID:27431685, PMID:27455012, PMID:27463523, PMID:28321846, PMID:28488383, PMID:28492532, PMID:29217025, PMID:29618921, PMID:29780932, PMID:32860008 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Rcn1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr 3:95,404,863...95,419,110
Ensembl chr 3:95,406,284...95,418,679
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:8975729, PMID:9090524, PMID:17630404, PMID:23349334, PMID:24138039, PMID:25741868, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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:23755871, PMID:28041643, PMID:28492532, PMID:29186038, PMID:30718709 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
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:21565171, PMID:22693542, PMID:22772592, PMID:23221965, PMID:23661369, PMID:24033266, PMID:24480711, PMID:24739949, PMID:25356976, PMID:25593508, PMID:25611614, PMID:25741868, PMID:26971461, PMID:28051075, PMID:28492532, PMID:28848678, PMID:29691984, PMID:30311386 NCBI chr16:50,111,803...50,136,741
Ensembl chr16:50,111,306...50,136,727
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 OMIM NCBI chr 3:123,224,242...123,236,535
Ensembl chr 3:123,224,242...123,236,535
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, PMID:21976959, PMID:24033266 NCBI chr 3:146,484,235...146,494,757
Ensembl chr 3:146,484,238...146,491,837
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, PMID:24413633, PMID:28492532 NCBI chr 7:38,742,250...38,782,282
Ensembl chr 7:38,742,051...38,782,323
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 chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
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 OMIM:613268 OMIM
ClinVar
PMID:16767101 NCBI chr 3:123,224,242...123,236,535
Ensembl chr 3:123,224,242...123,236,535
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 OMIM:613270
OMIM
ClinVar
PMID:20036349, PMID:26622166, PMID:28492532 NCBI chr17:54,656,627...54,714,920
Ensembl chr17:54,658,463...54,714,914
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 ATP/GTP binding protein-like 1 ISO ClinVar Annotator: match by OMIM:615523 OMIM
ClinVar
PMID:24094747 NCBI chr 1:137,798,862...138,711,126
Ensembl chr 1:137,799,185...138,711,126
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 OMIM:136800 OMIM
ClinVar
PMID:399801, PMID:11689488, PMID:15914606, PMID:18024822, PMID:22002996, PMID:23422828 NCBI chr 5:144,308,527...144,335,142
Ensembl chr 5:144,308,611...144,335,172
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:17220209, PMID:24916015, PMID:25741868, PMID:27057589, PMID:28492532, PMID:29327391 NCBI chr 3:123,224,242...123,236,535
Ensembl chr 3:123,224,242...123,236,535
JBrowse link
corneal endothelial dystrophy 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 endothelial dystrophy ClinVar PMID:16767101, PMID:16825429, PMID:17679935, PMID:18024964, PMID:18474783, PMID:23615275, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:123,224,242...123,236,535
Ensembl chr 3:123,224,242...123,236,535
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 8:97,175,657...97,175,733
Ensembl chr 8:97,175,657...97,175,733
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 chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
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:26786512, PMID:27309958 NCBI chr 1:267,416,681...267,465,049
Ensembl chr 1:267,417,459...267,463,705
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, PMID:1658654, PMID:1848334, PMID:2153578, PMID:2175344, PMID:2176481, PMID:2176550, PMID:4543600, PMID:6610849, PMID:6975851, PMID:7550233, PMID:7868127, PMID:8388189, PMID:11754099, PMID:25741868, PMID:28492532 NCBI chr 3:14,456,106...14,508,922
Ensembl chr 3:14,467,330...14,508,911
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, PMID:28492532 NCBI chr 9:71,911,744...72,005,816
Ensembl chr 9:71,915,421...72,005,838
JBrowse link
Fuchs' endothelial dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agbl1 ATP/GTP binding protein-like 1 ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr 1:137,798,862...138,711,126
Ensembl chr 1:137,799,185...138,711,126
JBrowse link
G C3 complement C3 ISO protein:decreased expression:aqueous humour RGD PMID:21139973 RGD:7401271 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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 chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Clu clusterin ISO RGD PMID:18378577, PMID:22956607 RGD:8696020, RGD:8661808 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
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 5:144,308,527...144,335,142
Ensembl chr 5:144,308,611...144,335,172
JBrowse link
G Loxhd1 lipoxygenase homology domains 1 ISO DNA:missense mutations: :multiple RGD PMID:22341973 RGD:11072687 NCBI chr18:73,645,365...73,812,271
Ensembl chr18:73,645,907...73,812,271
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 3:123,224,242...123,236,535
Ensembl chr 3:123,224,242...123,236,535
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 chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
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 chr17:54,656,627...54,714,920
Ensembl chr17:54,658,463...54,714,914
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 chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
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 4:98,341,187...98,342,887
Ensembl chr 4:98,341,188...98,342,887
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 OMIM:121900 OMIM
ClinVar
PMID:9054935, PMID:9727509, PMID:11923233 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
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: GRANULAR CORNEAL DYSTROPHY, TYPE II
ClinVar Annotator: match by OMIM:607541
OMIM
ClinVar
PMID:9054935, PMID:9780098, PMID:9930165, PMID:15059726, PMID:16606891 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
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:31630788, PMID:31630791 NCBI chr14:85,230,652...85,281,806
Ensembl chr14:85,230,648...85,281,803
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 chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
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 OMIM:122200 OMIM
ClinVar
PMID:9054935, PMID:9559741 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
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, PMID:15790870, PMID:16809844, PMID:19337156, PMID:21462384, PMID:23884333, PMID:25741868, PMID:26748743 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
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 Type I
ClinVar Annotator: match by OMIM:217800
OMIM
ClinVar
PMID:11017086, PMID:11278593, PMID:11818380, PMID:12824236, PMID:12882775, PMID:14984470, PMID:15013869, PMID:15652851, PMID:15953452, PMID:16207214, PMID:16568029, PMID:17093400, PMID:17962390, PMID:18500531, PMID:19204788, PMID:19337156, PMID:19365571, PMID:19710953, PMID:20539220, PMID:24033266, PMID:24926691, PMID:25081284, PMID:25741868, PMID:26604660, PMID:28492532 NCBI chr19:44,115,065...44,136,092
Ensembl chr19:44,115,120...44,135,387
JBrowse link
Macular Dystrophy, Retinal, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Macular dystrophy, retinal, 2 OMIM
ClinVar
PMID:10205271, PMID:12657606, PMID:18654668, PMID:20393116, PMID:20859302, PMID:22183351, PMID:22581970, PMID:24265693, PMID:25356976, PMID:25741868, PMID:25910913, PMID:26161267, PMID:26393467, PMID:28041643, PMID:28492532, PMID:28559085, PMID:29847639, PMID:30718709 NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
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 chr10:87,328,547...87,336,710
Ensembl chr10:87,328,549...87,335,823
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 NCBI chr10:87,328,547...87,336,710
Ensembl chr10:87,328,549...87,335,823
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 NCBI chr19:46,005,055...46,167,912
Ensembl chr19:46,005,277...46,101,250
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 NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Pax6 paired box 6 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 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, PMID:15086958, PMID:15629294, PMID:16407227, PMID:17417613, PMID:18776953, PMID:25741868, PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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, PMID:18216574, PMID:18626569, PMID:19763142, PMID:21976959, PMID:22171159, PMID:23592923, PMID:24033266, PMID:25741868, PMID:26879370, PMID:28492532 NCBI chr 3:146,484,235...146,494,757
Ensembl chr 3:146,484,238...146,491,837
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 3:138,433,990...138,464,511
Ensembl chr 3:138,433,990...138,462,063
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 3:123,224,242...123,236,535
Ensembl chr 3:123,224,242...123,236,535
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 PMID:7795607, PMID:11978762, PMID:15623752, PMID:16303937, PMID:16384943, PMID:18216574, PMID:18626569, PMID:19763142, PMID:21976959, PMID:22171159, PMID:23592923, PMID:24033266, PMID:25741868, PMID:26879370, PMID:28492532, PMID:16384943 RGD:8657036 NCBI chr 3:146,484,235...146,494,757
Ensembl chr 3:146,484,238...146,491,837
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 OMIM:609140 OMIM
ClinVar
PMID:399801, PMID:11689488, PMID:15914606, PMID:18024822, PMID:22002996, PMID:23422828 NCBI chr 5:144,308,527...144,335,142
Ensembl chr 5:144,308,611...144,335,172
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 null OMIM
ClinVar
PMID:12654361, PMID:16252232 NCBI chr17:54,656,627...54,714,920
Ensembl chr17:54,658,463...54,714,914
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
OMIM
PMID:29499165 NCBI chr 7:76,058,623...76,197,360
Ensembl chr 7:76,059,386...76,197,856
JBrowse link
Pseudoinflammatory Fundus Dystrophy, Finnish Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Pseudoinflammatory fundus dystrophy ClinVar PMID:25741868 NCBI chr 7:23,403,896...23,808,602
Ensembl chr 7:23,403,891...23,808,602
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Pseudoinflammatory fundus dystrophy ClinVar PMID:25741868 NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
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, PMID:16606891 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
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 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
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, PMID:17962451, PMID:18176953, PMID:20505825, PMID:23169578, PMID:23564352 NCBI chr 5:165,247,630...165,259,228
Ensembl chr 5:165,247,133...165,259,224
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 1:222,207,887...222,224,993
Ensembl chr 1:222,209,575...222,224,910
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 2:187,799,568...187,823,014
Ensembl chr 2:187,799,568...187,822,997
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 1:177,495,500...177,714,795
Ensembl chr 1:177,495,782...177,707,061
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 chr10:110,643,693...110,800,493
Ensembl chr10:110,643,759...110,800,493
JBrowse link
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by OMIM:602082 OMIM
ClinVar
PMID:9054935, PMID:9780098, PMID:11923233, PMID:22355247 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      eye disease 2652
        corneal disease 185
          corneal dystrophy 44
            Aniridia 1 7
            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
            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
            Macular Dystrophy, Fenestrated Sheen Type 0
            Macular Dystrophy, Retinal, 2 1
            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
            Retinal Macular Dystrophy 1, North Carolina Type 0
            Ribbonlike Corneal Degeneration with Deafness 0
            Sammartino De Crecchio Syndrome 0
            Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy 0
            Spondylometaphyseal Dysplasia with Corneal Dystrophy 1
            Sveinsson chorioretinal atrophy 2
            band keratopathy 0
            congenital stromal corneal dystrophy 1
            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
            stromal dystrophy + 5
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            Hereditary Eye Diseases 576
              corneal dystrophy 44
                Aniridia 1 7
                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
                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
                Macular Dystrophy, Fenestrated Sheen Type 0
                Macular Dystrophy, Retinal, 2 1
                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
                Retinal Macular Dystrophy 1, North Carolina Type 0
                Ribbonlike Corneal Degeneration with Deafness 0
                Sammartino De Crecchio Syndrome 0
                Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy 0
                Spondylometaphyseal Dysplasia with Corneal Dystrophy 1
                Sveinsson chorioretinal atrophy 2
                band keratopathy 0
                congenital stromal corneal dystrophy 1
                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
                stromal dystrophy + 5
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.