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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 chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12022040 NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209 		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 chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252 		JBrowse link
G Slc4a4 solute carrier family 4 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18614622 NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883 		JBrowse link
G Tnfaip6 TNF alpha induced protein 6 treatment ISO RGD PMID:20837529 RGD:7777186 NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649 		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 7:32,397,382...32,404,837
Ensembl chr 7:32,397,382...32,404,837 		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 chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890 		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 chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890 		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 chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549 		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 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		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 2:216,276,631...216,309,020
Ensembl chr 2:216,276,631...216,309,013 		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 2:216,344,563...216,375,193
Ensembl chr 2:216,343,822...216,375,242 		JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521
Ensembl chr16:146,192,126...146,195,521 		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 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865 		JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:216,092,709...216,095,276
Ensembl chr 2:216,093,363...216,094,154 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO
ISS		 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 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301 		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 2:216,257,926...216,267,635
Ensembl chr 2:216,234,774...216,267,841 		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 2:216,012,911...216,075,608
Ensembl chr 2:216,013,005...216,074,750 		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 1:77,202,436...77,319,298
Ensembl chr 1:77,202,436...77,319,298 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:25741868 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		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 chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		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 chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Dab1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr 5:118,392,953...119,513,625
Ensembl chr 5:119,140,533...119,510,552 		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 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243 		JBrowse link
G Ephb2 Eph receptor B2 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107 		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 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707 		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 chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543 		JBrowse link
G Pax6 paired box 6 ISO
ISS		 DNA:snp:cds:pN64K (mouse)
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
OMIM:604229
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:8364574 PMID:9727514 PMID:9792406 PMID:10234503 PMID:12015275 More... RGD:8551891 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
G Pitrm1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr17:63,795,670...63,827,317
Ensembl chr17:63,795,671...63,839,907 		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 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr10:60,331,494...60,354,606
Ensembl chr10:60,331,494...60,354,606 		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 chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Rarg retinoic acid receptor, gamma ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr 7:133,367,833...133,390,301
Ensembl chr 7:133,367,833...133,390,177 		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
ISS		 OMIM:261540
ClinVar Annotator: match by term: Peters plus syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 More... NCBI chr12:5,255,521...5,346,807
Ensembl chr12:5,255,740...5,346,810 		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 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359 		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 chr19:14,088,389...14,152,742
Ensembl chr19:14,089,686...14,152,829 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Winchester syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4238825 PMID:17480005 PMID:22922033 PMID:25741868 PMID:29741626 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864 		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 chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    sensory system disease 7326
      eye disease 3695
        corneal disease 237
          Corneal Opacity 41
            Axenfeld-Rieger syndrome type 1 11
            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 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        Neurologic Manifestations 10417
          sensory system disease 7326
            eye disease 3695
              corneal disease 237
                Corneal Opacity 41
                  Axenfeld-Rieger syndrome type 1 11
                  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