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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:anterior segment dysgenesis
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Accession:DOID:0060648 term browser browse the term
Definition:An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye. (DO)
Synonyms:exact_synonym: ASMD;   ASOD;   anterior segment anomalies;   anterior segment developmental anomaly;   anterior segment mesenchymal dysgenesis;   anterior segment ocular dysgenesis;   corneal opacification and other ocular anomalies;   corneal opacification with other ocular anomalies;   sclerocornea with other ocular anomalie;   sclerocornea with other ocular anomalies
 narrow_synonym: anterior segment anomalies and cataract
 primary_id: MESH:C537775
 alt_id: DOID:0060605
 xref: GARD:10025;   OMIM:PS107250;   ORDO:88632
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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:32499604 NCBI chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:25741868 PMID:32499604 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
JBrowse link
G Cpamd8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis
CTD
ClinVar
PMID:27839872 PMID:32499604 NCBI chr 4:155,332,827...155,413,098
Ensembl chr 4:155,332,827...155,413,117
JBrowse link
G 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: Ocular anterior segment dysgenesis
CTD
ClinVar
PMID:9497261 PMID:11403040 PMID:12036985 PMID:17591938 PMID:19234632 More... NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
JBrowse link
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar
RGD
PMID:28492532 PMID:28513611 PMID:32499604 PMID:10767326 RGD:8662365 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
JBrowse link
G Foxe3 forkhead box E3 ISO DNA:insertion:cds:c.943_944insG (human)
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar
RGD
PMID:16826526 PMID:20361012 PMID:25741868 PMID:26854927 PMID:28492532 More... RGD:1598957 NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454
JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:32499604 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
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 chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:24281366 PMID:32499604 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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:32499604 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Pitx3 paired-like homeodomain 3 ISO DNA:insertion:exon:c.657ins17bp
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:9620774 PMID:18989383 PMID:18989383 RGD:11535067 NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892
JBrowse link
G Pxdn peroxidasin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES
CTD
ClinVar
PMID:26694549 PMID:28492532 PMID:32499604 NCBI chr 6:46,580,749...46,658,345
Ensembl chr 6:46,580,761...46,658,345
JBrowse link
G Tsc1 TSC complex subunit 1 ISS MouseDO NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454
JBrowse link
G Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 1 ClinVar PMID:9620774 PMID:15286169 PMID:17888164 PMID:21836522 PMID:24555714 More... NCBI chr 1:245,018,535...245,147,052
Ensembl chr 1:245,018,568...245,147,042
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 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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 chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892
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 OMIM
ClinVar
PMID:26854927 PMID:28492532 NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454
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 OMIM
ClinVar
PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 More... NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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, polypeptide 1 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11558822 More... NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:28492532 NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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:1954207 PMID:6988567 PMID:9651515 PMID:9727514 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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:28166811 PMID:28492532 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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, polypeptide 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:9097971 PMID:9463332 PMID:9497261 PMID:10426814 PMID:10739169 More... NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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:21474777 PMID:21907015 PMID:24939590 PMID:25741868 PMID:26694549 More... NCBI chr 6:46,580,749...46,658,345
Ensembl chr 6:46,580,761...46,658,345
JBrowse link
anterior segment dysgenesis 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:25741868 PMID:27839872 PMID:32499604 NCBI chr 4:155,332,827...155,413,098
Ensembl chr 4:155,332,827...155,413,117
JBrowse link
congenital aphakia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital primary aphakia
CTD
ClinVar
PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:17893665 More... NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454
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:15051220 PMID:25741868 NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869
JBrowse link
Peters anomaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:11558822 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: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 2:121,928,188...122,056,711
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 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
JBrowse link
G 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
CTD
RGD
PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 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...63,827,313
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:28166811 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:26893459 PMID:28492532 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3glct beta 3-glucosyltransferase ISO ClinVar Annotator: match by term: Peters plus syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 More... NCBI chr12:5,255,521...5,346,998
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:29584859 NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    sensory system disease 6410
      eye disease 2936
        Eye Abnormalities 461
          anterior segment dysgenesis 28
            Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 1
            anterior segment dysgenesis 1 4
            anterior segment dysgenesis 2 + 1
            anterior segment dysgenesis 3 1
            anterior segment dysgenesis 4 1
            anterior segment dysgenesis 5 + 15
            anterior segment dysgenesis 6 1
            anterior segment dysgenesis 7 1
            anterior segment dysgenesis 8 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          eye disease 2936
            corneal disease 209
              sclerocornea 31
                anterior segment dysgenesis 28
                  Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 1
                  anterior segment dysgenesis 1 4
                  anterior segment dysgenesis 2 + 1
                  anterior segment dysgenesis 3 1
                  anterior segment dysgenesis 4 1
                  anterior segment dysgenesis 5 + 15
                  anterior segment dysgenesis 6 1
                  anterior segment dysgenesis 7 1
                  anterior segment dysgenesis 8 1
paths to the root