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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


show annotations for term's descendants           Sort by:
sclerocornea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C8H14orf39 chromosome 8 C14orf39 homolog ISO ClinVar Annotator: match by term: Sclerocornea ClinVar NCBI chr 8:35,486,476...35,542,214
Ensembl chr 8:35,487,228...35,542,218 		JBrowse link
G RAD54L RAD54 like ISO OMIM:181700 MouseDO NCBI chr15:14,111,168...14,139,819
Ensembl chr15:14,111,157...14,139,301 		JBrowse link
G SIX6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Sclerocornea ClinVar NCBI chr 8:35,565,838...35,568,423
Ensembl chr 8:35,566,018...35,567,838 		JBrowse link
anterior segment dysgenesis term browser
Symbol Object Name Qualifiers 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 chr 3:40,613,902...40,939,616
Ensembl chr 3:40,613,759...40,939,615 		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 chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666 		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 chr20:45,659,795...45,737,492
Ensembl chr20:45,653,620...45,736,931 		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 chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554 		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 chr29:20,176,306...20,595,131
Ensembl chr29:20,177,014...20,525,653 		JBrowse link
G FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:28492532 PMID:28513611 PMID:32499604
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 chr15:13,291,160...13,295,982 JBrowse link
G GJA8 gap junction protein alpha 8 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:32499604 NCBI chr17:58,360,313...58,428,751
Ensembl chr17:58,424,072...58,425,391 		JBrowse link
G 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 chr20:12,746,171...13,065,256
Ensembl chr20:12,747,315...13,064,198 		JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:24281366 PMID:32499604
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 chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273 		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 chr28:14,760,741...14,775,584
Ensembl chr28:14,761,094...14,762,716 		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 chr17:834,625...891,551
Ensembl chr17:836,434...875,117 		JBrowse link
G RBP4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:25741868 NCBI chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES ClinVar PMID:18414213 PMID:20681998 PMID:22473935 PMID:23394784 PMID:24033266 More... NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493 		JBrowse link
G TSC1 TSC complex subunit 1 ISO MouseDO NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677 		JBrowse link
anterior segment dysgenesis 1 term browser
Symbol Object Name Qualifiers 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 chr15:13,291,160...13,295,982 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 chr28:14,775,431...14,896,121
Ensembl chr28:14,788,369...14,895,978 		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 chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273 		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 chr28:14,760,741...14,775,584
Ensembl chr28:14,761,094...14,762,716 		JBrowse link
anterior segment dysgenesis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXE3 forkhead box E3 susceptibility ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 2 ClinVar
OMIM		 PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 More... NCBI chr15:13,291,160...13,295,982 JBrowse link
anterior segment dysgenesis 3 term browser
Symbol Object Name Qualifiers 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...
anterior segment dysgenesis 4 term browser
Symbol Object Name Qualifiers 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 chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273 		JBrowse link
anterior segment dysgenesis 5 term browser
Symbol Object Name Qualifiers 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 chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554 		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 chr18:35,638,606...35,880,194
Ensembl chr18:35,639,011...36,024,005 		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 chr11:35,174,390...35,338,983
Ensembl chr11:35,176,934...35,310,335 		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...
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 chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273 		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 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662 		JBrowse link
anterior segment dysgenesis 6 term browser
Symbol Object Name Qualifiers 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 chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554 		JBrowse link
anterior segment dysgenesis 7 term browser
Symbol Object Name Qualifiers 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 chr17:834,625...891,551
Ensembl chr17:836,434...875,117 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES ClinVar PMID:18414213 PMID:20681998 PMID:22473935 PMID:23394784 PMID:24033266 More... NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493 		JBrowse link
anterior segment dysgenesis 8 term browser
Symbol Object Name Qualifiers 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:34,621,314...34,735,502
Ensembl chr  X:34,621,886...34,645,766 		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 chr20:45,659,795...45,737,492
Ensembl chr20:45,653,620...45,736,931 		JBrowse link
congenital aphakia term browser
Symbol Object Name Qualifiers 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 chr15:13,324,235...13,357,387
Ensembl chr15:13,326,185...13,358,152 		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 chr15:13,291,160...13,295,982 JBrowse link
G STIL STIL centriolar assembly protein ISO ClinVar Annotator: match by term: Congenital primary aphakia ClinVar PMID:28492532 NCBI chr15:13,369,292...13,431,677
Ensembl chr15:13,371,925...13,430,951 		JBrowse link
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome term browser
Symbol Object Name Qualifiers 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 chr23:1,268,465...1,274,854
Ensembl chr23:1,269,139...1,274,784 		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 1:108,952,836...109,034,329
Ensembl chr 1:108,952,562...109,034,337 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:25741868 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		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 chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666 		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 chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554 		JBrowse link
G DAB1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr 5:51,397,837...52,505,513
Ensembl chr 5:52,231,141...52,502,336 		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 chr18:35,638,606...35,880,194
Ensembl chr18:35,639,011...36,024,005 		JBrowse link
G EPHB2 EPH receptor B2 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr 2:76,427,112...76,551,494
Ensembl chr 2:76,428,203...76,612,786 		JBrowse link
G FAT1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr16:44,113,621...44,241,187
Ensembl chr16:44,128,386...44,241,192 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045 		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 chr11:35,174,390...35,338,983
Ensembl chr11:35,176,934...35,310,335 		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...
G PITRM1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 PMID:28492532 NCBI chr 2:32,182,934...32,220,119
Ensembl chr 2:32,182,853...32,220,072 		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 chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273 		JBrowse link
G PRPF8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr 9:45,797,882...45,827,365
Ensembl chr 9:45,797,959...45,828,071 		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 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662 		JBrowse link
G RARG retinoic acid receptor gamma ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis ClinVar PMID:26893459 NCBI chr27:1,958,432...1,978,471
Ensembl chr27:1,958,204...1,978,476 		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 ClinVar Annotator: match by term: Peters plus syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 More... NCBI chr25:8,815,681...8,938,899
Ensembl chr25:8,817,628...8,939,249 		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 chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    sensory system disease 6611
      eye disease 3382
        corneal disease 233
          sclerocornea 38
            Sclerocornea, Autosomal Dominant 0
            anterior segment dysgenesis + 35
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 15182
      nervous system disease 13239
        Neurologic Manifestations 9586
          sensory system disease 6611
            eye disease 3382
              corneal disease 233
                sclerocornea 38
                  Sclerocornea, Autosomal Dominant 0
                  anterior segment dysgenesis + 35
paths to the root