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: sclerocornea
Accession: DOID:0060252
browse the term
Definition: A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. (DO)
Synonyms: exact_synonym: isolated congenital sclerocornea
narrow_synonym: SCLEROCORNEA, AUTOSOMAL RECESSIVE
primary_id: MESH:C565209 ; RDO:0013918
xref: ORDO:91490
For additional species annotation, visit the
Alliance of Genome Resources .
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Rad54l
RAD54 like
ISS
OMIM:181700
MouseDO
NCBI chr 5:134,948,511...134,978,125
Ensembl chr 5:134,948,512...134,978,125
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Adamts17
ADAM metallopeptidase with thrombospondin type 1 motif, 17
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar
PMID:32499604
NCBI chr 1:127,802,872...128,126,764
Ensembl chr 1:127,802,978...128,124,171
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Col4a1
collagen type IV alpha 1 chain
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar
PMID:25741868 PMID:32499604
NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar Annotator: match by term: Anterior segment ocular dysgenesis
CTD ClinVar
PMID:9497261 PMID:11403040 PMID:11527932 PMID:12036985 PMID:17591938 PMID:18852424 PMID:19234632 PMID:19643970 PMID:22004014 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24281366 PMID:24940937 PMID:25741868 PMID:27243976 PMID:27272408 PMID:27508083 PMID:27820421 PMID:28192799 PMID:28448622 PMID:28492532 PMID:32499604 PMID:32832252
NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
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Eya1
EYA transcriptional coactivator and phosphatase 1
ISO
ClinVar Annotator: match by term: Anterior segment anomalies and cataract
ClinVar
PMID:10655545
NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
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Foxc1
forkhead box C1
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar
PMID:32499604 , PMID:10767326
RGD:8662365
NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
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Foxe3
forkhead box E3
ISO
DNA:insertion:cds:c.943_944insG (human) ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar
PMID:16826526 PMID:20361012 PMID:32499604 , PMID:11159941
RGD:1598957
NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656
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Gja8
gap junction protein, alpha 8
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar
PMID:32499604
NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470
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Itpr1
inositol 1,4,5-trisphosphate receptor, type 1
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar
PMID:25741868 PMID:27108798 PMID:32499604
NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
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Pax6
paired box 6
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar
PMID:24281366 PMID:32499604
NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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Pitx2
paired-like homeodomain 2
ISO
ClinVar Annotator: match by term: Anterior segment mesenchymal dysgenesis ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar Annotator: match by term: Anterior segment ocular dysgenesis ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1
ClinVar
PMID:7581385 PMID:9437321 PMID:15378534 PMID:15591271 PMID:25741868 PMID:26220699 PMID:28492532 PMID:32499604
NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
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Pitx3
paired-like homeodomain 3
ISO
DNA:insertion:exon:c.657ins17bp CTD Direct Evidence: marker/mechanism
CTD
PMID:9620774 PMID:18989383 , PMID:18989383
RGD:11535067
NCBI chr 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958
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Pxdn
peroxidasin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar Annotator: match by term: Anterior segment ocular dysgenesis
CTD ClinVar
PMID:32499604
NCBI chr 6:48,866,496...48,982,368
Ensembl chr 6:48,866,601...48,980,340
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Tsc1
TSC complex subunit 1
ISS
MouseDO
NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
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Foxe3
forkhead box E3
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis 1
ClinVar
PMID:17893665 PMID:27218149 PMID:28492532
NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656
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Pitx2
paired-like homeodomain 2
ISO
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1
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
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Pitx3
paired-like homeodomain 3
ISO
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES ClinVar Annotator: match by term: Anterior segment dysgenesis 1
ClinVar OMIM
PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:17888164 PMID:18989383 PMID:21836522 PMID:24555714 PMID:28492532
NCBI chr 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958
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Foxe3
forkhead box E3
ISO
OMIM
NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656
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Foxc1
forkhead box C1
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis 3 ClinVar Annotator: match by term: Iridogoniodysgenesis type1 ClinVar Annotator: match by OMIM:601631
OMIM ClinVar
PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 PMID:19668217 PMID:19793056 PMID:25741868 PMID:28492532 PMID:32832252
NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
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Pitx2
paired-like homeodomain 2
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis 4 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 4 ClinVar Annotator: match by term: Iridogoniodysgenesis, dominant type ClinVar Annotator: match by OMIM:137600
OMIM ClinVar CTD
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 PMID:25741868 PMID:28492532 PMID:32499604
NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5
ClinVar
PMID:10655546 PMID:11403040 PMID:11774072 PMID:11980847 PMID:12036985 PMID:14507861 PMID:16688110 PMID:16735991 PMID:16735994 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18622259 PMID:19204079 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:21081970 PMID:21168818 PMID:22004014 PMID:23028769 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25741868 PMID:25978063 PMID:27243976 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27820421 PMID:28384041 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30653986 PMID:30788381 PMID:32499604
NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5
ClinVar
NCBI chr 3:95,733,810...95,954,987
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Frem1
Fras1 related extracellular matrix 1
ISO
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5
ClinVar
PMID:21931569 PMID:26893459
NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
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Pax6
paired box 6
ISO
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE TYPES ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE
OMIM ClinVar
PMID:1251879 PMID:1954207 PMID:6988567 PMID:9651515 PMID:10441571 PMID:14561779 PMID:25741868 PMID:28492532
NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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Pitx2
paired-like homeodomain 2
ISO
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5
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
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar Annotator: match by term: Anterior segment dysgenesis 6
ClinVar OMIM
PMID:11403040 PMID:12036985 PMID:19643970 PMID:22004014 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24281366 PMID:25741868 PMID:27820421 PMID:28492532 PMID:32499604
NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
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Pxdn
peroxidasin
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis 7 ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES
OMIM ClinVar
PMID:21474777 PMID:21907015 PMID:24939590 PMID:25741868 PMID:26694549 PMID:28492532
NCBI chr 6:48,866,496...48,982,368
Ensembl chr 6:48,866,601...48,980,340
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Foxe3
forkhead box E3
ISO
ClinVar Annotator: match by term: Aphakia, congenital primary ClinVar Annotator: match by term: Congenital primary aphakia CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 PMID:20361012 PMID:21150893 PMID:24033266 PMID:24033328 PMID:25504734 PMID:25741868 PMID:26854927 PMID:26995144 PMID:28492532 PMID:29136273 PMID:29878917 PMID:32499604
NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656
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Vsx1
visual system homeobox 1
ISO
ClinVar Annotator: match by OMIM:614195 ClinVar Annotator: match by term: Craniofacial anomalies and anterior segment dysgenesis syndrome
OMIM ClinVar
PMID:15051220 PMID:25741868
NCBI chr 3:146,484,235...146,494,757
Ensembl chr 3:146,484,238...146,491,837
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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:19204079 PMID:19234632 PMID:19236111 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:24123366 PMID:24281366 PMID:25091052 PMID:25333069 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:30653986 PMID:30788381 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
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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
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: Peters anomaly
ClinVar
NCBI chr 3:95,733,810...95,954,987
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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
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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
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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
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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
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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:25741868 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
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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
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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
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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
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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
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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
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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
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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
NCBI chr12:6,403,118...6,476,010
Ensembl chr12:6,403,940...6,473,321
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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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all