Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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



show annotations for term's descendants           Sort by:
sclerocornea term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C15H14orf39 chromosome 15 C14orf39 homolog ISO ClinVar Annotator: match by term: Sclerocornea ClinVar NCBI chr14:41,040,315...41,090,267
Ensembl chr14:59,304,040...59,351,956
JBrowse link
G RAD54L RAD54 like ISO OMIM:181700 MouseDO NCBI chr 1:45,549,586...45,581,711
Ensembl chr 1:46,905,598...46,936,259
JBrowse link
G SIX6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Sclerocornea ClinVar NCBI chr14:41,113,282...41,117,018
Ensembl chr14:59,376,109...59,378,691
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 chr15:78,703,728...79,076,861
Ensembl chr15:97,999,448...98,366,893
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 chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
JBrowse link
G CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:25741868 PMID:27839872 PMID:32499604 NCBI chr19:16,379,956...16,513,841
Ensembl chr19:17,359,534...17,487,791
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 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 chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824
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 chr 8:67,728,057...68,060,069
Ensembl chr 8:69,387,769...69,551,829
JBrowse link
G FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:28492532 PMID:28513611 PMID:32499604 NCBI chr 6:1,429,051...1,433,180 JBrowse link
G FOXE3 forkhead box E3 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesis ClinVar PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 More... NCBI chr 1:46,710,791...46,712,771 JBrowse link
G GJA8 gap junction protein alpha 8 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:32499604 NCBI chr 1:123,352,801...123,355,625
Ensembl chr 1:112,174,365...112,177,893
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:21465660 PMID:25741868 PMID:27108798 PMID:32499604 NCBI chr 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811
JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:24281366 PMID:32499604 NCBI chr11:31,753,190...31,782,225
Ensembl chr11:31,641,813...31,664,474
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 chr 4:103,112,624...103,137,356 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 chr10:98,833,330...98,846,292 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 chr2A:1,584,901...1,699,675
Ensembl chr2A:1,582,193...1,692,033
JBrowse link
G RBP4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:25741868 NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887
JBrowse link
G TSC1 TSC complex subunit 1 ISO MouseDO NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759
JBrowse link
anterior segment dysgenesis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXE3 forkhead box E3 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 1 ClinVar PMID:28492532 NCBI chr 1:46,710,791...46,712,771 JBrowse link
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 chr10:98,849,000...98,986,443
Ensembl chr10:102,316,329...102,452,439
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 chr 4:103,112,624...103,137,356 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 chr10:98,833,330...98,846,292 JBrowse link
anterior segment dysgenesis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXE3 forkhead box E3 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 2 ClinVar
OMIM
PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 More... NCBI chr 1:46,710,791...46,712,771 JBrowse link
anterior segment dysgenesis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 3 | ClinVar Annotator: match by term: Glaucoma iridogoniodysplasia, familial OMIM
ClinVar
PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 More... NCBI chr 6:1,429,051...1,433,180 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 chr 4:103,112,624...103,137,356 JBrowse link
anterior segment dysgenesis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 More... NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824
JBrowse link
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 chr11:31,473,439...31,754,446 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 chr 9:14,567,781...14,748,474
Ensembl chr 9:15,081,208...15,253,399
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 chr11:31,753,190...31,782,225
Ensembl chr11:31,641,813...31,664,474
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 chr 4:103,112,624...103,137,356 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 chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
JBrowse link
anterior segment dysgenesis 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 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 chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824
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 chr2A:1,584,901...1,699,675
Ensembl chr2A:1,582,193...1,692,033
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 chr  X:32,497,931...32,624,307
Ensembl chr  X:40,202,235...40,249,986
JBrowse link
G CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 8 OMIM
ClinVar
PMID:16199547 PMID:25741868 PMID:27839872 PMID:28492532 PMID:29556725 More... NCBI chr19:16,379,956...16,513,841
Ensembl chr19:17,359,534...17,487,791
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 chr 1:46,642,602...46,673,568 JBrowse link
G FOXE3 forkhead box E3 ISO ClinVar Annotator: match by term: Congenital primary aphakia ClinVar PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:17893665 More... NCBI chr 1:46,710,791...46,712,771 JBrowse link
G STIL STIL centriolar assembly protein ISO ClinVar Annotator: match by term: Congenital primary aphakia ClinVar PMID:28492532 NCBI chr 1:46,551,592...46,639,668
Ensembl chr 1:48,072,728...48,137,071
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 chr20:25,011,149...25,025,545
Ensembl chr20:25,361,216...25,372,705
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 chr19:43,850,692...43,994,487
Ensembl chr19:52,435,379...52,521,104
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:25741868 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752
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 chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
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 chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824
JBrowse link
G DAB1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr 1:56,279,089...57,529,881
Ensembl chr 1:58,005,136...58,286,708
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 chr11:31,473,439...31,754,446 JBrowse link
G EPHB2 EPH receptor B2 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr 1:21,895,961...22,107,649
Ensembl chr 1:22,912,570...23,047,118
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 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357
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 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407
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 9:14,567,781...14,748,474
Ensembl chr 9:15,081,208...15,253,399
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 chr11:31,753,190...31,782,225
Ensembl chr11:31,641,813...31,664,474
JBrowse link
G PITRM1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr10:3,135,895...3,171,235
Ensembl chr10:3,148,758...3,184,120
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 4:103,112,624...103,137,356 JBrowse link
G PRPF8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr17:1,635,991...1,669,703
Ensembl chr17:1,532,579...1,565,254
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 chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
JBrowse link
G RARG retinoic acid receptor gamma ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr12:35,521,276...35,542,814
Ensembl chr12:36,303,359...36,325,111
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 chr13:12,475,095...12,601,818
Ensembl chr13:30,927,270...31,035,719
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 chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6624
      eye disease 3375
        corneal disease 221
          sclerocornea 37
            Sclerocornea, Autosomal Dominant 0
            anterior segment dysgenesis + 34
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6624
            eye disease 3375
              corneal disease 221
                sclerocornea 37
                  Sclerocornea, Autosomal Dominant 0
                  anterior segment dysgenesis + 34
paths to the root