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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
 xref: MESH:D003318



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 GLB1 galactosidase beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:817853 NCBI chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12022040 NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199
JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Corneal opacity ClinVar PMID:11030752 PMID:11317355 PMID:16199547 PMID:28492532 PMID:31623504 NCBI chr20:52,318,411...52,327,389
Ensembl chr20:52,318,408...52,348,963
JBrowse link
G SLC4A4 solute carrier family 4 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18614622 NCBI chr13:60,375,215...60,670,664
Ensembl chr13:60,328,136...60,666,728
JBrowse link
G TNFAIP6 TNF alpha induced protein 6 treatment ISO RGD PMID:20837529 RGD:7777186 NCBI chr19:52,607,598...52,623,799
Ensembl chr19:52,607,713...52,623,811
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 DNA:point_mutation:CDS:amino acid N247S RGD PMID:10802664 RGD:1600335 NCBI chr15:31,750,768...31,758,588
Ensembl chr15:31,670,924...31,758,871
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 ClinVar Annotator: match by term: Corneal clouding cutis laxa mental retardation | ClinVar Annotator: match by term: Progeroid syndrome of De Barsy | ClinVar Annotator: match by term: de Barsy syndrome ClinVar PMID:8779323 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21739576 More... NCBI chr28:9,101,578...9,148,063
Ensembl chr28:9,102,282...9,147,992
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 ClinVar Annotator: match by term: Cutis laxa-corneal clouding-oligophrenia syndrome | ClinVar Annotator: match by term: DE BARSY SYNDROME A OMIM
ClinVar
PMID:8779323 PMID:9536098 PMID:9643297 PMID:11092761 PMID:16199547 More... NCBI chr28:9,101,578...9,148,063
Ensembl chr28:9,102,282...9,147,992
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: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB | ClinVar Annotator: match by term: DE BARSY SYNDROME B | ClinVar Annotator: match by term: PYCR1-related condition OMIM
ClinVar
PMID:4076251 PMID:9536098 PMID:16199547 PMID:16233902 PMID:17576681 More... NCBI chr 9:360,353...364,795
Ensembl chr 9:360,376...364,570
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPK1 alpha kinase 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:32,135,110...32,270,732
Ensembl chr32:32,136,738...32,267,264
JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:32,484,196...33,143,295
Ensembl chr32:32,671,281...33,141,036
JBrowse link
G AP1AR adaptor related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:32,083,077...32,123,857
Ensembl chr32:32,083,105...32,122,200
JBrowse link
G FAM241A family with sequence similarity 241 member A ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:31,990,486...32,034,616
Ensembl chr32:31,990,621...32,029,631
JBrowse link
G HMGN2 high mobility group nucleosomal binding domain 2 ISO OMIM:180500 MouseDO NCBI chr 2:73,579,042...73,582,786
Ensembl chr 2:73,579,042...73,610,696
JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:32,421,648...32,439,431
Ensembl chr32:32,421,675...32,439,131
JBrowse link
G MIR302A microRNA mir-302a ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:32,429,209...32,429,277
Ensembl chr32:32,429,209...32,429,277
JBrowse link
G MIR302B microRNA mir-302b ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:32,429,500...32,429,574
Ensembl chr32:32,429,500...32,429,574
JBrowse link
G MIR302C microRNA mir-302c ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:32,429,366...32,429,433
Ensembl chr32:32,429,366...32,429,433
JBrowse link
G MIR302D microRNA mir-302d ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:32,429,032...32,429,101
Ensembl chr32:32,429,032...32,429,101
JBrowse link
G MIR367 microRNA mir-367 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:32,428,905...32,428,972
Ensembl chr32:32,428,905...32,428,972
JBrowse link
G NEUROG2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:32,310,939...32,313,492
Ensembl chr32:32,312,097...32,312,915
JBrowse link
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 OMIM
ClinVar
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 More... NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr19:19,129,418...19,327,377
Ensembl chr19:19,129,081...19,325,590
JBrowse link
G TIFA TRAF interacting protein with forkhead associated domain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:32,125,870...32,135,159
Ensembl chr32:32,126,634...32,127,191
JBrowse link
G ZGRF1 zinc finger GRF-type containing 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr32:32,344,348...32,421,485
Ensembl chr32:32,344,791...32,418,441
JBrowse link
Peters anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP35 Rho GTPase activating protein 35 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:25741868 PMID:36450800 NCBI chr 1:108,952,836...109,034,329
Ensembl chr 1:108,952,562...109,034,337
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:25741868 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 More... NCBI chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554
JBrowse link
G DAB1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr 5:51,397,837...52,505,513
Ensembl chr 5:52,231,141...52,502,336
JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 NCBI chr18:35,638,606...35,880,194
Ensembl chr18:35,639,011...36,024,005
JBrowse link
G EPHB2 EPH receptor B2 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr 2:76,427,112...76,551,494
Ensembl chr 2:76,428,203...76,612,786
JBrowse link
G FAT1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr16:44,113,621...44,241,187
Ensembl chr16:44,128,386...44,241,192
JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045
JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:21931569 PMID:26893459 PMID:28492532 NCBI chr11:35,174,390...35,338,983
Ensembl chr11:35,176,934...35,310,335
JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:8364574 PMID:9727514 PMID:9792406 PMID:10234503 PMID:12015275 More...
G PITRM1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr 2:32,182,934...32,220,119
Ensembl chr 2:32,182,853...32,220,072
JBrowse link
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
JBrowse link
G PRPF8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr 9:45,797,882...45,827,365
Ensembl chr 9:45,797,959...45,828,071
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:1347096 PMID:26467025 PMID:26893459 PMID:28492532 PMID:30762128 More... NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
G RARG retinoic acid receptor gamma ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr27:1,958,432...1,978,471
Ensembl chr27:1,958,204...1,978,476
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 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 More... NCBI chr25:8,815,681...8,938,899
Ensembl chr25:8,817,628...8,939,249
JBrowse link
G FGF8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29584859 NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468
JBrowse link
Winchester syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LPCAT2 lysophosphatidylcholine acyltransferase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar NCBI chr 2:60,401,317...60,469,177
Ensembl chr 2:60,388,557...60,469,199
JBrowse link
G MMP14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: MMP14-related condition | ClinVar Annotator: match by term: Winchester syndrome OMIM
ClinVar
PMID:4238825 PMID:17480005 PMID:22922033 PMID:25741868 PMID:28492532 More... NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar PMID:9536098 PMID:11431697 PMID:16458924 PMID:17576681 PMID:19019335 More... NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15758
    sensory system disease 7035
      eye disease 3622
        corneal disease 237
          Corneal Opacity 44
            Axenfeld-Rieger syndrome type 1 16
            Mental Retardation Mietens Weber Type 0
            Microphthalmia and Mental Deficiency 0
            Peters anomaly + 18
            Rosenthal-Kloepfer Syndrome 0
            Spondyloepiphyseal Dysplasia Tarda, Toledo Type 0
            Winchester syndrome 3
            arcus senilis 1
            autosomal recessive cutis laxa type III + 2
Path 2
Term Annotations click to browse term
  disease 15758
    disease of anatomical entity 15377
      nervous system disease 13504
        Neurologic Manifestations 9991
          sensory system disease 7035
            eye disease 3622
              corneal disease 237
                Corneal Opacity 44
                  Axenfeld-Rieger syndrome type 1 16
                  Mental Retardation Mietens Weber Type 0
                  Microphthalmia and Mental Deficiency 0
                  Peters anomaly + 18
                  Rosenthal-Kloepfer Syndrome 0
                  Spondyloepiphyseal Dysplasia Tarda, Toledo Type 0
                  Winchester syndrome 3
                  arcus senilis 1
                  autosomal recessive cutis laxa type III + 2
paths to the root