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

ONTOLOGY REPORT - ANNOTATIONS


Term:anterior segment dysgenesis
go back to main search page
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;   RDO:0003673;   RDO:9004845
 xref: GARD:10025;   OMIM:PS107250;   ORDO:88632
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
anterior segment dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:11554173
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:8662365
G Foxe3 forkhead box E3 JBrowse link 5 133,724,796 133,725,656 RGD:1598957
RGD:8554872
G Mug2 murinoglobulin 2 JBrowse link 4 154,215,262 154,282,608 RGD:11554173
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:8554872
RGD:11554173
RGD:11535067
G Pxdn peroxidasin JBrowse link 6 48,866,496 48,982,368 RGD:11554173
RGD:8554872
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:13592920
Anterior Segment Dysgenesis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:8554872
RGD:7240710
Anterior Segment Dysgenesis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:7240710
RGD:8554872
Anterior Segment Dysgenesis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:7240710
RGD:8554872
Anterior Segment Dysgenesis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:8554872
RGD:7240710
G Dab1 DAB adaptor protein 1 JBrowse link 5 123,154,360 124,279,170 RGD:8554872
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
G Ephb2 Eph receptor B2 JBrowse link 5 155,024,478 155,143,539 RGD:8554872
G Fat1 FAT atypical cadherin 1 JBrowse link 16 50,372,150 50,501,716 RGD:8554872
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:8554872
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
G Pitrm1 pitrilysin metallopeptidase 1 JBrowse link 17 68,477,423 68,509,113 RGD:8554872
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
G Prpf8 pre-mRNA processing factor 8 JBrowse link 10 63,635,239 63,658,360 RGD:8554872
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
G Rarg retinoic acid receptor, gamma JBrowse link 7 143,840,739 143,863,206 RGD:8554872
G Rmdn2 regulator of microtubule dynamics 2 JBrowse link 6 2,215,062 2,292,288 RGD:8554872
Anterior Segment Dysgenesis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pxdn peroxidasin JBrowse link 6 48,866,496 48,982,368 RGD:7240710
RGD:8554872
Anterior Segment Dysgenesis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mug2 murinoglobulin 2 JBrowse link 4 154,215,262 154,282,608 RGD:8554872
RGD:7240710
congenital aphakia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxe3 forkhead box E3 JBrowse link 5 133,724,796 133,725,656 RGD:7240710
RGD:8554872
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vsx1 visual system homeobox 1 JBrowse link 3 146,484,235 146,494,757 RGD:7240710
RGD:8554872
Peters anomaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:7800682
RGD:8554872
G Dab1 DAB adaptor protein 1 JBrowse link 5 123,154,360 124,279,170 RGD:8554872
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
G Ephb2 Eph receptor B2 JBrowse link 5 155,024,478 155,143,539 RGD:8554872
G Fat1 FAT atypical cadherin 1 JBrowse link 16 50,372,150 50,501,716 RGD:8554872
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:8554872
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8551891
RGD:8554872
RGD:7240710
G Pitrm1 pitrilysin metallopeptidase 1 JBrowse link 17 68,477,423 68,509,113 RGD:8554872
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
G Prpf8 pre-mRNA processing factor 8 JBrowse link 10 63,635,239 63,658,360 RGD:8554872
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
G Rarg retinoic acid receptor, gamma JBrowse link 7 143,840,739 143,863,206 RGD:8554872
G Rmdn2 regulator of microtubule dynamics 2 JBrowse link 6 2,215,062 2,292,288 RGD:8554872
Peters plus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3glct beta 3-glucosyltransferase JBrowse link 12 6,403,118 6,476,010 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        Congenital Abnormalities 3598
          Eye Abnormalities 279
            anterior segment dysgenesis 23
              Anterior Segment Dysgenesis 1 2
              Anterior Segment Dysgenesis 3 1
              Anterior Segment Dysgenesis 4 1
              Anterior Segment Dysgenesis 6 15
              Anterior Segment Dysgenesis 7 1
              Anterior Segment Dysgenesis 8 1
              Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 1
              Peters anomaly + 15
              congenital aphakia 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          eye and adnexa disease 2253
            eye disease 2253
              corneal disease 172
                sclerocornea 23
                  anterior segment dysgenesis 23
                    Anterior Segment Dysgenesis 1 2
                    Anterior Segment Dysgenesis 3 1
                    Anterior Segment Dysgenesis 4 1
                    Anterior Segment Dysgenesis 6 15
                    Anterior Segment Dysgenesis 7 1
                    Anterior Segment Dysgenesis 8 1
                    Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 1
                    Peters anomaly + 15
                    congenital aphakia 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.