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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 Opacity
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Accession:DOID:9008606 term browser browse the term
Definition:Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque.
Synonyms:exact_synonym: Corneal Opacities;   Leukoma;   Leukomas
 primary_id: MESH:D003318;   RDO:0000901
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Corneal Opacity 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 term: Corneal opacities ClinVar PMID:30311386 NCBI chr 1:137,798,862...138,711,126
Ensembl chr 1:137,799,185...138,711,126
JBrowse link
G Glb1 galactosidase, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:817853 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12022040 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Mcoln1 mucolipin 1 ISO ClinVar Annotator: match by term: Corneal opacities ClinVar PMID:30311386 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Corneal opacities ClinVar PMID:9695949, PMID:23159249, PMID:25326635, PMID:25356970, PMID:25522177, PMID:25741868, PMID:25741881, PMID:26795593, PMID:26842493, PMID:26944241, PMID:27681385, PMID:28111752, PMID:28471432, PMID:28492532, PMID:28554332, PMID:28628100, PMID:28975623, PMID:29550517, PMID:30113927, PMID:30311386, PMID:30690871, PMID:32963807 NCBI chr 1:220,515,117...220,645,611
Ensembl chr 1:220,516,316...220,644,636
JBrowse link
G Slc4a4 solute carrier family 4 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18614622 NCBI chr14:20,476,258...20,817,042
Ensembl chr14:20,479,323...20,920,286
JBrowse link
G Tnfaip6 TNF alpha induced protein 6 treatment ISO RGD PMID:20837529 RGD:7777186 NCBI chr 3:37,545,238...37,564,704
Ensembl chr 3:37,545,238...37,564,699
JBrowse link
arcus senilis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
autosomal recessive cutis laxa type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:deletions:cds:
ClinVar Annotator: match by term: Progeroid syndrome of De Barsy
DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)
ClinVar PMID:28492532, PMID:24913064, PMID:26320891 RGD:13434922, RGD:13434923 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
autosomal recessive cutis laxa type IIIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:mutations:cds:c.2246G>A(p.R749Q),c.2294G>A(p.R765Q)(human)
ClinVar Annotator: match by term: Cutis laxa-corneal clouding-oligophrenia syndrome
ClinVar Annotator: match by term: DE BARSY SYNDROME A
ClinVar
OMIM
PMID:8779323, PMID:11092761, PMID:18478038, PMID:21739576, PMID:24767728, PMID:24913064, PMID:25326637, PMID:25741868, PMID:26026163, PMID:26297558, PMID:26320891, PMID:28492532, PMID:25077174 RGD:13439710 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
autosomal recessive cutis laxa type IIIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: DE BARSY SYNDROME B
ClinVar Annotator: match by OMIM:614438
OMIM
ClinVar
PMID:4076251, PMID:18348262, PMID:19648921, PMID:22052856, PMID:25741868 NCBI chr10:109,817,300...109,822,218
Ensembl chr10:109,818,177...109,821,807
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:152,195,359...152,198,813
Ensembl chr 5:152,195,361...152,198,813
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:180500
OMIM
ClinVar
CTD
PMID:8944018, PMID:9685346, PMID:10490637, PMID:10502778, PMID:10644443, PMID:11301317, PMID:11487566, PMID:12612071, PMID:14623826, PMID:14630904, PMID:15378534, PMID:15728254, PMID:16498627, PMID:18045789, PMID:18723525, PMID:19052653, PMID:20881294, PMID:22569110, PMID:25741868, PMID:26220699, PMID:28492532, PMID:29100920 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
JBrowse link
Peters anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO DNA:snp:cds:p.G61E (human)
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar Annotator: match by term: Peters anomaly
ClinVar PMID:9497261, PMID:10655546, PMID:11403040, PMID:11558822, PMID:11774072, PMID:11854439, PMID:11980847, PMID:12036985, PMID:14507861, PMID:15037581, PMID:15255109, PMID:15342693, PMID:16688110, PMID:16735991, PMID:16735994, PMID:16862072, PMID:17363580, PMID:17563717, PMID:17591938, PMID:17718864, PMID:18470941, PMID:18537981, PMID:18622259, PMID:18852424, PMID:19234632, PMID:19536304, PMID:19597567, PMID:19643970, PMID:19744731, PMID:19793111, PMID:20198978, PMID:20664688, PMID:21081970, PMID:21168818, PMID:21815720, PMID:21850185, PMID:21854771, PMID:22004014, PMID:22128238, PMID:23028769, PMID:23218183, PMID:23218701, PMID:23922489, PMID:24033266, PMID:24281366, PMID:25091052, PMID:25527694, PMID:25646030, PMID:25741868, PMID:25950505, PMID:25978063, PMID:27060699, PMID:27243976, PMID:27272408, PMID:27408750, PMID:27508083, PMID:27535533, PMID:27820421, PMID:28384041, PMID:28448622, PMID:28492532, PMID:28620713, PMID:29556725, PMID:30311386, PMID:32499604, PMID:32832252, PMID:15621878 RGD:7800682 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
G Dab1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr 5:123,154,360...124,279,170
Ensembl chr 5:123,905,166...124,280,115
JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Ephb2 Eph receptor B2 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr 5:155,024,478...155,143,539
Ensembl chr 5:155,022,493...155,204,456
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:21931569, PMID:26893459 NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
JBrowse link
G Pax6 paired box 6 ISO DNA:snp:cds:pN64K (mouse)
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peters anomaly
ClinVar
CTD
PMID:24281366, PMID:28492532, PMID:32499604, PMID:19345209 RGD:8551891 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Pitrm1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Peters anomaly
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar PMID:26893459 NCBI chr17:68,477,423...68,509,113
Ensembl chr17:68,477,446...68,509,120
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Peters anomaly
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar PMID:15378534, PMID:25741868, PMID:26220699, PMID:28492532 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr10:63,635,239...63,658,360
Ensembl chr10:63,635,219...63,658,361
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:1347096, PMID:26893459, PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Rarg retinoic acid receptor, gamma ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr 7:143,840,739...143,863,206
Ensembl chr 7:143,839,980...143,863,186
JBrowse link
G Rmdn2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar NCBI chr 6:2,215,062...2,292,288
Ensembl chr 6:2,216,623...2,280,777
JBrowse link
Peters plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3glct beta 3-glucosyltransferase ISO ClinVar Annotator: match by term: Peters plus syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:261540
OMIM
ClinVar
CTD
PMID:16909395, PMID:18199743, PMID:18798333, PMID:19796186, PMID:20301637, PMID:23161355, PMID:23213277, PMID:23889335, PMID:25741868, PMID:26684045, PMID:28492532, PMID:30311386 NCBI chr12:6,403,118...6,476,010
Ensembl chr12:6,403,940...6,473,321
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868, PMID:29584859 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
Winchester syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Winchester syndrome ClinVar
OMIM
PMID:4238825, PMID:22922033, PMID:25741868 NCBI chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655
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 Opacity 32
            Axenfeld-Rieger syndrome type 1 5
            Mental Retardation Mietens Weber Type 0
            Microphthalmia and Mental Deficiency 0
            Peters anomaly + 16
            Rosenthal-Kloepfer Syndrome 0
            Spondyloepiphyseal Dysplasia Tarda, Toledo Type 0
            Winchester syndrome 1
            arcus senilis 1
            autosomal recessive cutis laxa type III + 2
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
            corneal disease 185
              Corneal Opacity 32
                Axenfeld-Rieger syndrome type 1 5
                Mental Retardation Mietens Weber Type 0
                Microphthalmia and Mental Deficiency 0
                Peters anomaly + 16
                Rosenthal-Kloepfer Syndrome 0
                Spondyloepiphyseal Dysplasia Tarda, Toledo Type 0
                Winchester syndrome 1
                arcus senilis 1
                autosomal recessive cutis laxa type III + 2
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.