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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 chr 9:114,230,146...114,303,447
Ensembl chr 9:114,230,144...114,303,966
JBrowse link
G Jag1 jagged 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12022040 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
JBrowse link
G Mcoln1 mucolipin 1 ISO ClinVar Annotator: match by term: Corneal opacity ClinVar PMID:11030752 PMID:11317355 PMID:16199547 PMID:28492532 PMID:31623504 NCBI chr 8:3,550,458...3,565,232
Ensembl chr 8:3,550,457...3,565,232
JBrowse link
G Slc4a4 solute carrier family 4 (anion exchanger), member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18614622 NCBI chr 5:88,941,717...89,387,515
Ensembl chr 5:89,034,345...89,387,512
JBrowse link
G Tnfaip6 tumor necrosis factor alpha induced protein 6 treatment ISO RGD PMID:20837529 RGD:7777186 NCBI chr 2:51,928,125...51,946,693
Ensembl chr 2:51,928,021...51,946,698
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 chr10:97,442,873...97,449,555
Ensembl chr10:97,442,741...97,449,554
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: Corneal clouding cutis laxa mental retardation | ClinVar Annotator: match by term: Progeroid syndrome of De Barsy | ClinVar Annotator: match by term: de Barsy syndrome
DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)
ClinVar
RGD
PMID:8779323 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21739576 More... RGD:13434922, RGD:13434923 NCBI chr19:40,538,701...40,576,907
Ensembl chr19:40,538,701...40,576,907
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
RGD
PMID:8779323 PMID:9536098 PMID:9643297 PMID:11092761 PMID:16199547 More... RGD:13439710 NCBI chr19:40,538,701...40,576,907
Ensembl chr19:40,538,701...40,576,907
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 chr11:120,527,591...120,534,602
Ensembl chr11:120,526,538...120,534,595
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 3:127,460,367...127,574,195
Ensembl chr 3:127,463,959...127,574,176
JBrowse link
G Ank2 ankyrin 2, brain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:126,715,256...127,293,996
Ensembl chr 3:126,715,261...127,292,999
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 3:127,600,656...127,631,148
Ensembl chr 3:127,600,656...127,631,172
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 3:127,663,337...127,689,972
Ensembl chr 3:127,662,707...127,689,973
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 IAGP OMIM:180500 MouseDO NCBI chr 4:133,692,050...133,695,302
Ensembl chr 4:133,692,049...133,695,961
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 3:127,330,363...127,346,998
Ensembl chr 3:127,330,363...127,346,998
JBrowse link
G Mir302a microRNA 302a ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,339,145...127,339,213
Ensembl chr 3:127,339,145...127,339,213
JBrowse link
G Mir302b microRNA 302b ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,338,877...127,338,950
Ensembl chr 3:127,338,877...127,338,950
JBrowse link
G Mir302c microRNA 302c ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,339,012...127,339,079
Ensembl chr 3:127,339,012...127,339,079
JBrowse link
G Mir302d microRNA 302d ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,339,273...127,339,338
Ensembl chr 3:127,339,273...127,339,338
JBrowse link
G Mir367 microRNA 367 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,339,382...127,339,456
Ensembl chr 3:127,339,382...127,339,456
JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,426,382...127,429,285
Ensembl chr 3:127,426,784...127,429,280
JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO
IAGP
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500
OMIM
ClinVar
MouseDO
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 More... NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240
JBrowse link
G Prdm5 PR domain containing 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 6:65,754,640...65,914,606
Ensembl chr 6:65,755,972...65,913,994
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 3:127,582,524...127,592,043
Ensembl chr 3:127,583,454...127,625,813
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 3:127,347,080...127,411,672
Ensembl chr 3:127,347,138...127,411,672
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 7:16,228,398...16,349,313
Ensembl chr 7:16,227,644...16,348,918
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:25741868 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
JBrowse link
G Col4a1 collagen, type IV, alpha 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826
JBrowse link
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
RGD
PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 More... RGD:7800682 NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490
JBrowse link
G Dab1 disabled 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr 4:103,476,425...104,602,041
Ensembl chr 4:103,476,556...104,602,041
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 2:105,527,665...105,734,909
Ensembl chr 2:105,531,372...105,734,909
JBrowse link
G Ephb2 Eph receptor B2 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr 4:136,374,850...136,563,637
Ensembl chr 4:136,374,850...136,563,299
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 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294
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 3:38,939,867...39,066,134
Ensembl chr 3:38,941,089...39,066,134
JBrowse link
G Frem1 Fras1 related extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:21931569 PMID:26893459 PMID:28492532 NCBI chr 4:82,816,157...82,970,743
Ensembl chr 4:82,816,164...82,970,576
JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar NCBI chr 2:105,490,598...105,506,398 JBrowse link
G LOC110599581 Cyp1b1 5' regulatory region ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar NCBI chr17:80,022,357...80,028,601 JBrowse link
G Pax6 paired box 6 IAGP
ISO
DNA:snp:cds:pN64K (mouse)
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
CTD Direct Evidence: marker/mechanism
OMIM:604229
ClinVar
CTD
MouseDO
RGD
PMID:8364574 PMID:9727514 PMID:9792406 PMID:10234503 PMID:12015275 More... RGD:8551891 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709
JBrowse link
G Pitrm1 pitrilysin metallepetidase 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr13:6,598,158...6,630,194
Ensembl chr13:6,598,185...6,630,551
JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240
JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr11:75,377,603...75,400,273
Ensembl chr11:75,377,642...75,400,275
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 chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
JBrowse link
G Rarg retinoic acid receptor, gamma ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr15:102,143,373...102,165,891
Ensembl chr15:102,143,373...102,165,952
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
IAGP
ClinVar Annotator: match by term: Peters plus syndrome
OMIM:261540
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 More... NCBI chr 5:149,601,565...149,686,064
Ensembl chr 5:149,601,695...149,686,064
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 chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354
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 8:93,581,948...93,645,907
Ensembl chr 8:93,581,967...93,645,907
JBrowse link
G Mmp14 matrix metallopeptidase 14 (membrane-inserted) ISO ClinVar Annotator: match by term: MMP14-related condition | ClinVar Annotator: match by term: Winchester syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:4238825 PMID:17480005 PMID:22922033 PMID:25741868 PMID:28492532 More... NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821
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 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16269
    sensory system disease 7186
      eye disease 3716
        corneal disease 248
          Corneal Opacity 46
            Axenfeld-Rieger syndrome type 1 16
            Mental Retardation Mietens Weber Type 0
            Microphthalmia and Mental Deficiency 0
            Peters anomaly + 20
            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 16269
    disease of anatomical entity 15860
      nervous system disease 13794
        Neurologic Manifestations 10199
          sensory system disease 7186
            eye disease 3716
              corneal disease 248
                Corneal Opacity 46
                  Axenfeld-Rieger syndrome type 1 16
                  Mental Retardation Mietens Weber Type 0
                  Microphthalmia and Mental Deficiency 0
                  Peters anomaly + 20
                  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