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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


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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 chr15:77,480,895...77,592,130
Ensembl chr15:77,480,598...77,592,120
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12022040 NCBI chr 2:27,484,699...27,521,108
Ensembl chr 2:27,484,760...27,522,504
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 chr 6:7,019,132...7,030,675
Ensembl chr 6:7,019,277...7,030,474
JBrowse link
G SLC4A4 solute carrier family 4 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18614622 NCBI chr 7:19,581,399...20,043,334 JBrowse link
G TNFAIP6 TNF alpha induced protein 6 treatment ISO RGD PMID:20837529 RGD:7777186 NCBI chr10:36,792,505...36,814,271
Ensembl chr10:36,792,514...36,814,494
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 chr11:86,467,315...86,475,217
Ensembl chr11:86,468,181...86,473,097
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 chr 9:88,773,493...88,823,438 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 chr 9:88,773,493...88,823,438 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 chr16:73,805,680...73,810,707
Ensembl chr16:73,805,409...73,810,199
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 chr 7:60,096,755...60,233,569
Ensembl chr 7:60,202,204...60,236,743
JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 7:60,487,776...61,174,351
Ensembl chr 7:60,938,523...61,175,519
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 chr 7:60,029,576...60,069,199
Ensembl chr 7:60,052,140...60,071,815
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 chr 7:59,953,872...59,983,789
Ensembl chr 7:59,953,976...59,984,360
JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 7:60,407,137...60,429,885
Ensembl chr 7:60,406,618...60,430,080
JBrowse link
G NEUROG2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 7:60,296,442...60,299,093
Ensembl chr 7:60,297,586...60,298,404
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 chr 7:58,501,669...58,526,413
Ensembl chr 7:58,501,559...58,507,318
JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 7:67,985,387...68,207,113
Ensembl chr 7:67,987,359...68,206,893
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 chr 7:60,074,764...60,085,029
Ensembl chr 7:60,076,999...60,077,556
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 chr 7:60,322,709...60,407,026
Ensembl chr 7:60,322,750...60,403,124
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 6:40,264,466...40,353,157
Ensembl chr 6:40,205,892...40,353,280
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:25741868 NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225
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 chr 3:88,410,800...88,564,191
Ensembl chr 3:88,412,168...88,564,057
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 chr14:69,318,713...69,327,277
Ensembl chr14:69,319,495...69,324,157
JBrowse link
G DAB1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr20:74,727,084...75,968,434
Ensembl chr20:75,541,508...75,968,427
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 chr 1:33,419,313...33,679,046
Ensembl chr 1:33,421,038...33,678,990
JBrowse link
G EPHB2 EPH receptor B2 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr20:109,747,883...109,954,936
Ensembl chr20:109,746,925...109,890,777
JBrowse link
G FAT1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr 7:132,475,689...132,616,151
Ensembl chr 7:132,483,032...132,616,112
JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr 7:72,498,182...72,686,607
Ensembl chr 7:72,500,264...72,685,546
JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:21931569 PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr12:64,681,181...64,849,266 JBrowse link
G LOC103219825 protein patched homolog 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:1347096 PMID:26467025 PMID:26893459 PMID:28492532 PMID:30762128 More... NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985
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... NCBI chr 1:33,386,165...33,414,605
Ensembl chr 1:33,392,970...33,414,587
JBrowse link
G PITRM1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr 9:3,192,692...3,239,667 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 chr 7:58,501,669...58,526,413
Ensembl chr 7:58,501,559...58,507,318
JBrowse link
G PRPF8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr16:1,321,568...1,352,775
Ensembl chr16:1,321,416...1,352,466
JBrowse link
G RARG retinoic acid receptor gamma ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr11:49,319,104...49,340,725
Ensembl chr11:49,319,839...49,328,656
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 chr 3:10,058,041...10,178,996
Ensembl chr 3:10,059,196...10,179,037
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 chr 9:94,797,157...94,803,725
Ensembl chr 9:94,798,088...94,803,629
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 5:41,293,191...41,369,443
Ensembl chr 5:41,294,580...41,372,825
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 chr29:23,201,425...23,212,408
Ensembl chr29:23,201,112...23,212,679
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 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15415
    sensory system disease 6934
      eye disease 3571
        corneal disease 224
          Corneal Opacity 38
            Axenfeld-Rieger syndrome type 1 10
            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 15415
    disease of anatomical entity 15079
      nervous system disease 13230
        Neurologic Manifestations 9818
          sensory system disease 6934
            eye disease 3571
              corneal disease 224
                Corneal Opacity 38
                  Axenfeld-Rieger syndrome type 1 10
                  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