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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:sclerocornea
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Accession:DOID:0060252 term browser 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


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sclerocornea term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH14orf39 chromosome unknown C14orf39 homolog ISO ClinVar Annotator: match by term: Sclerocornea ClinVar NCBI chrNW_004955466:9,158,022...9,194,088
Ensembl chrNW_004955466:9,157,944...9,195,226
JBrowse link
G Rad54l RAD54 like ISO OMIM:181700 MouseDO NCBI chrNW_004955464:11,996,512...12,033,525
Ensembl chrNW_004955464:11,996,512...12,033,490
JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Sclerocornea ClinVar NCBI chrNW_004955466:9,120,227...9,122,109
Ensembl chrNW_004955466:9,120,227...9,122,109
JBrowse link
anterior segment dysgenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif 17 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:19836009 PMID:24940034 PMID:28492532 PMID:32499604 NCBI chrNW_004955416:27,128,066...27,434,826
Ensembl chrNW_004955416:27,130,559...27,434,747
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chrNW_004955404:2,196,193...2,327,324
Ensembl chrNW_004955404:2,260,029...2,326,074
JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Anterior segment anomalies | ClinVar Annotator: match by term: Anterior segment anomalies and cataract ClinVar PMID:10655545 NCBI chrNW_004955444:8,336,071...8,655,041
Ensembl chrNW_004955444:8,495,530...8,655,100
JBrowse link
G Gja8 gap junction protein alpha 8 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:32499604 NCBI chrNW_004955568:514,905...516,551
Ensembl chrNW_004955568:515,113...516,435
JBrowse link
G LOC102009223 cytochrome P450 1B1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesis ClinVar PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 More... NCBI chrNW_004955441:5,803,397...5,812,131
Ensembl chrNW_004955441:5,803,032...5,812,131
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:24281366 PMID:32499604 NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162
JBrowse link
G Pitx2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:7581385 PMID:9437321 PMID:15591271 PMID:22569110 PMID:25741868 More... NCBI chrNW_004955457:15,803,493...15,823,193
Ensembl chrNW_004955457:15,803,219...15,823,310
JBrowse link
G Pitx3 paired like homeodomain 3 ISO DNA:insertion:exon:c.657ins17bp
CTD Direct Evidence: marker/mechanism
RGD
MouseDO
CTD
PMID:9620774 PMID:18989383 RGD:11535067 NCBI chrNW_004955485:8,130,244...8,140,292
Ensembl chrNW_004955485:8,130,244...8,140,292
JBrowse link
G Pxdn peroxidasin ISO ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES ClinVar PMID:25741868 PMID:26694549 PMID:28492532 PMID:32499604 NCBI chrNW_004955487:4,867,427...4,936,454
Ensembl chrNW_004955487:4,867,427...4,936,522
JBrowse link
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:25741868 NCBI chrNW_004955507:112,342...120,050
Ensembl chrNW_004955507:108,669...120,584
JBrowse link
G Tsc1 TSC complex subunit 1 ISO MouseDO NCBI chrNW_004955513:2,197,037...2,244,992
Ensembl chrNW_004955513:2,197,037...2,244,992
JBrowse link
anterior segment dysgenesis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: Anterior segment dysgenesis 1 ClinVar PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:17888164 More... NCBI chrNW_004955485:8,006,161...8,126,074
Ensembl chrNW_004955485:8,006,706...8,115,561
JBrowse link
G 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 chrNW_004955457:15,803,493...15,823,193
Ensembl chrNW_004955457:15,803,219...15,823,310
JBrowse link
G 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 OMIM
ClinVar
PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:17888164 More... NCBI chrNW_004955485:8,130,244...8,140,292
Ensembl chrNW_004955485:8,130,244...8,140,292
JBrowse link
anterior segment dysgenesis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant OMIM
ClinVar
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:25741868 More... NCBI chrNW_004955457:15,803,493...15,823,193
Ensembl chrNW_004955457:15,803,219...15,823,310
JBrowse link
anterior segment dysgenesis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 NCBI chrNW_004955476:9,850,110...10,054,313
Ensembl chrNW_004955476:9,849,365...10,054,583
JBrowse link
G Frem1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:21931569 PMID:26893459 PMID:28492532 NCBI chrNW_004955434:17,754,002...17,901,416
Ensembl chrNW_004955434:17,753,925...17,901,407
JBrowse link
G LOC102009223 cytochrome P450 1B1 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 More... NCBI chrNW_004955441:5,803,397...5,812,131
Ensembl chrNW_004955441:5,803,032...5,812,131
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE OMIM
ClinVar
PMID:1251879 PMID:1684738 PMID:1954207 PMID:6988567 PMID:8364574 More... NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162
JBrowse link
G 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 chrNW_004955457:15,803,493...15,823,193
Ensembl chrNW_004955457:15,803,219...15,823,310
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:1347096 PMID:25741868 PMID:26893459 PMID:28492532 NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622
JBrowse link
anterior segment dysgenesis 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102009223 cytochrome P450 1B1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 6 | ClinVar Annotator: match by term: Anterior segment dysgenesis 6, multiple subtypes OMIM
ClinVar
PMID:2782041 PMID:9097971 PMID:9463332 PMID:9497261 PMID:10227395 More... NCBI chrNW_004955441:5,803,397...5,812,131
Ensembl chrNW_004955441:5,803,032...5,812,131
JBrowse link
anterior segment dysgenesis 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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:9536098 PMID:17576681 PMID:21474777 PMID:21907015 PMID:24939590 More... NCBI chrNW_004955487:4,867,427...4,936,454
Ensembl chrNW_004955487:4,867,427...4,936,522
JBrowse link
anterior segment dysgenesis 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcor BCL6 corepressor ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 8 ClinVar PMID:25741868 NCBI chrNW_004955566:1,412,540...1,510,339
Ensembl chrNW_004955566:1,412,540...1,457,329
JBrowse link
congenital aphakia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cmpk1 cytidine/uridine monophosphate kinase 1 ISO ClinVar Annotator: match by term: Congenital primary aphakia ClinVar PMID:28492532 NCBI chrNW_004955464:11,179,432...11,213,147 JBrowse link
G Stil STIL centriolar assembly protein ISO ClinVar Annotator: match by term: Congenital primary aphakia ClinVar PMID:28492532 NCBI chrNW_004955464:11,213,265...11,288,648
Ensembl chrNW_004955464:11,228,667...11,289,648
JBrowse link
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vsx1 visual system homeobox 1 ISO ClinVar Annotator: match by term: Craniofacial anomalies and anterior segment dysgenesis syndrome OMIM
ClinVar
PMID:11978762 PMID:15051220 PMID:16303937 PMID:21976959 PMID:25741868 More... NCBI chrNW_004955415:31,174,155...31,180,718
Ensembl chrNW_004955415:31,175,452...31,180,655
JBrowse link
Peters anomaly term browser
Symbol Object Name 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 chrNW_004955574:915,604...984,744
Ensembl chrNW_004955574:915,325...984,744
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:25741868 NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303
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 chrNW_004955404:2,196,193...2,327,324
Ensembl chrNW_004955404:2,260,029...2,326,074
JBrowse link
G Dab1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chrNW_004955464:2,325,529...2,721,497
Ensembl chrNW_004955464:2,455,346...2,724,358
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 chrNW_004955476:9,850,110...10,054,313
Ensembl chrNW_004955476:9,849,365...10,054,583
JBrowse link
G Ephb2 EPH receptor B2 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chrNW_004955452:2,844,713...2,986,790
Ensembl chrNW_004955452:2,844,713...2,980,445
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004955403:22,502,625...22,618,513
Ensembl chrNW_004955403:22,502,625...22,619,211
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004955428:15,621,333...15,812,167
Ensembl chrNW_004955428:15,622,498...15,810,896
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 chrNW_004955434:17,754,002...17,901,416
Ensembl chrNW_004955434:17,753,925...17,901,407
JBrowse link
G LOC102009223 cytochrome P450 1B1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 More... NCBI chrNW_004955441:5,803,397...5,812,131
Ensembl chrNW_004955441:5,803,032...5,812,131
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 chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162
JBrowse link
G Pitrm1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004955421:28,010,756...28,041,336
Ensembl chrNW_004955421:28,008,733...28,042,116
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 chrNW_004955457:15,803,493...15,823,193
Ensembl chrNW_004955457:15,803,219...15,823,310
JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chrNW_004955481:1,499,634...1,530,670
Ensembl chrNW_004955481:1,499,634...1,530,670
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:1347096 PMID:25741868 PMID:26467025 PMID:26893459 PMID:28492532 More... NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622
JBrowse link
G Rarg retinoic acid receptor gamma ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chrNW_004955458:480,257...501,172
Ensembl chrNW_004955458:480,070...501,356
JBrowse link
Peters plus syndrome term browser
Symbol Object Name 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 chrNW_004955431:14,507,184...14,621,376
Ensembl chrNW_004955431:14,507,184...14,633,351
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 chrNW_004955485:8,517,412...8,521,732
Ensembl chrNW_004955485:8,517,412...8,521,770
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6160
      eye disease 3164
        corneal disease 207
          sclerocornea 33
            Sclerocornea, Autosomal Dominant 0
            anterior segment dysgenesis + 30
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        Neurologic Manifestations 8844
          sensory system disease 6160
            eye disease 3164
              corneal disease 207
                sclerocornea 33
                  Sclerocornea, Autosomal Dominant 0
                  anterior segment dysgenesis + 30
paths to the root