ONTOLOGY REPORT - ANNOTATIONS


Term:Eye Abnormalities
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Accession:DOID:9008296 term browser browse the term
Definition:Congenital absence of or defects in structures of the eye; may also be hereditary.
Synonyms:exact_synonym: Eye Abnormality
 primary_id: MESH:D005124;   RDO:0000705
For additional species annotation, visit the Alliance of Genome Resources.


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Eye Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apaf1 apoptotic peptidase activating factor 1 JBrowse link 7 31,699,309 31,784,192 RGD:11554173
G Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:11554173
G Bmpr1a bone morphogenetic protein receptor type 1A JBrowse link 16 10,758,278 10,852,170 RGD:11554173
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:11554173
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:1600694
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:11554173
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:11554173
G Ift122 intraflagellar transport 122 JBrowse link 4 147,756,574 147,826,983 RGD:11554173
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:11554173
G Ndst1 N-deacetylase and N-sulfotransferase 1 JBrowse link 18 55,951,497 56,014,107 RGD:11554173
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:1601211
RGD:731242
RGD:1601210
G Sh3pxd2b SH3 and PX domains 2B JBrowse link 10 17,209,152 17,296,449 RGD:11554173
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:11554173
G Sox2 SRY box 2 JBrowse link 2 121,165,137 121,167,545 RGD:8661660
RGD:8661661
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:11554173
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:11554173
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:11554173
G Vsx1 visual system homeobox 1 JBrowse link 3 146,484,235 146,494,757 RGD:11554173
3MC syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:8554872
G Ahsg alpha-2-HS-glycoprotein JBrowse link 11 81,711,269 81,717,594 RGD:8554872
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:11554173
G Crygs crystallin, gamma S JBrowse link 11 81,796,891 81,802,172 RGD:8554872
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 JBrowse link 11 81,741,342 81,757,806 RGD:8554872
G Eif4a2 eukaryotic translation initiation factor 4A2 JBrowse link 11 81,373,047 81,379,680 RGD:8554872
G Fetub fetuin B JBrowse link 11 81,648,890 81,660,472 RGD:8554872
G Hrg histidine-rich glycoprotein JBrowse link 11 81,621,274 81,639,938 RGD:8554872
G Kng2 kininogen 2 JBrowse link 11 81,509,185 81,516,759 RGD:8554872
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:7240710
RGD:8554872
RGD:11554173
G Rfc4 replication factor C subunit 4 JBrowse link 11 81,358,592 81,373,044 RGD:8554872
G Rpl39l ribosomal protein L39-like JBrowse link 10 5,529,580 5,533,695 RGD:8554872
G Rtp1 receptor (chemosensory) transporter protein 1 JBrowse link 11 80,823,989 80,826,505 RGD:8554872
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 JBrowse link 11 80,927,601 80,981,424 RGD:8554872
G Tbccd1 TBCC domain containing 1 JBrowse link 11 81,757,963 81,794,367 RGD:8554872
ablepharon macrostomia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist2 twist family bHLH transcription factor 2 JBrowse link 9 98,924,134 98,968,510 RGD:7240710
RGD:8554872
aniridia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpk1 alpha-kinase 1 JBrowse link 2 231,997,360 232,117,471 RGD:8554872
G Ank2 ankyrin 2 JBrowse link 2 231,224,643 231,522,655 RGD:8554872
G Ap1ar adaptor-related protein complex 1 associated regulatory protein JBrowse link 2 232,146,418 232,178,813 RGD:8554872
G Arsj arylsulfatase family, member J JBrowse link 2 230,163,014 230,662,084 RGD:8554872
G Camk2d calcium/calmodulin-dependent protein kinase II delta JBrowse link 2 230,900,907 231,132,207 RGD:8554872
G Dcdc5 doublecortin domain containing 5 JBrowse link 3 97,207,500 97,435,067 RGD:8554872
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 JBrowse link 3 96,025,388 96,065,765 RGD:8554872
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
RGD:11554173
G Fam241a family with sequence similarity 241 member A JBrowse link 2 232,214,331 232,245,319 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:8554872
G Glis3 GLIS family zinc finger 3 JBrowse link 1 246,380,816 246,564,385 RGD:8554872
G Gmds GDP-mannose 4, 6-dehydratase JBrowse link 17 33,408,722 33,938,086 RGD:8554872
G Immp1l inner mitochondrial membrane peptidase subunit 1 JBrowse link 3 95,955,126 96,024,316 RGD:8554872
G Kif21a kinesin family member 21A JBrowse link 7 132,069,962 132,200,947 RGD:8554872
G Larp7 La ribonucleoprotein domain family, member 7 JBrowse link 2 231,866,888 231,882,002 RGD:8554872
G Neurog2 neurogenin 2 JBrowse link 2 231,962,517 231,963,441 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:1601209
RGD:8554872
RGD:12790966
RGD:11554173
RGD:8552301
RGD:8552277
RGD:8552246
RGD:8551879
RGD:8551870
RGD:8551860
RGD:8551859
RGD:8551858
RGD:8551856
G Tifa TRAF-interacting protein with forkhead-associated domain JBrowse link 2 232,104,394 232,137,425 RGD:8554872
G Trim44 tripartite motif-containing 44 JBrowse link 3 91,968,781 92,242,138 RGD:11554173
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:11554173
G Zgrf1 zinc finger, GRF-type containing 1 JBrowse link 2 231,881,893 231,944,760 RGD:8554872
Aniridia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcdc5 doublecortin domain containing 5 JBrowse link 3 97,207,500 97,435,067 RGD:8554872
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 JBrowse link 3 96,025,388 96,065,765 RGD:8554872
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
G Immp1l inner mitochondrial membrane peptidase subunit 1 JBrowse link 3 95,955,126 96,024,316 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
G Rcn1 reticulocalbin 1 JBrowse link 3 95,404,863 95,419,110 RGD:8554872
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:8554872
Aniridia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:7240710
Aniridia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trim44 tripartite motif-containing 44 JBrowse link 3 91,968,781 92,242,138 RGD:8554872
RGD:7240710
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:7240710
RGD:8554872
RGD:11568643
RGD:11554173
Anophthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otx2 orthodenticle homeobox 2 JBrowse link 15 25,500,037 25,511,619 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
G Rax retina and anterior neural fold homeobox JBrowse link 18 61,638,352 61,642,056 RGD:11554173
G Sox2 SRY box 2 JBrowse link 2 121,165,137 121,167,545 RGD:1599088
RGD:11554173
G Stra6 stimulated by retinoic acid 6 JBrowse link 8 62,925,364 62,944,438 RGD:11554173
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 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
anterior segment mesenchymal 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:8554872
RGD:11554173
Arhinia, Choanal Atresia, and Microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 JBrowse link 9 119,675,750 119,818,620 RGD:11554173
RGD:7240710
RGD:8554872
autosomal dominant isolated ectopia lentis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:7240710
autosomal recessive isolated ectopia lentis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl4 ADAMTS-like 4 JBrowse link 2 197,803,572 197,815,058 RGD:7240710
RGD:8554872
Axenfeld-Rieger syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dact1 dishevelled-binding antagonist of beta-catenin 1 JBrowse link 6 93,740,440 93,751,003 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:8554872
RGD:12904045
RGD:12904044
RGD:12904042
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:8554872
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:8554872
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
RGD:12910560
RGD:12910558
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
Axenfeld-Rieger syndrome type 1 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:11554173
G Hmgn2 high mobility group nucleosomal binding domain 2 JBrowse link 5 152,195,359 152,198,813 RGD:13592920
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:11554173
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:7240710
RGD:8554872
RGD:11554173
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
Axenfeld-Rieger syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adarb1 adenosine deaminase, RNA-specific, B1 JBrowse link 20 11,972,352 12,101,022 RGD:8554872
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:13592920
G Col18a1 collagen type XVIII alpha 1 chain JBrowse link 20 12,225,202 12,332,858 RGD:8554872
G Col6a1 collagen type VI alpha 1 chain JBrowse link 20 12,657,913 12,676,370 RGD:8554872
G Col6a2 collagen type VI alpha 2 chain JBrowse link 20 12,773,472 12,801,179 RGD:8554872
G Dip2a disco-interacting protein 2 homolog A JBrowse link 20 13,044,056 13,127,971 RGD:8554872
G Fam207a family with sequence similarity 207, member A JBrowse link 20 11,863,145 11,896,833 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:7240710
RGD:8554872
G Foxe3 forkhead box E3 JBrowse link 5 133,724,796 133,725,656 RGD:8554872
G Ftcd formimidoyltransferase cyclodeaminase JBrowse link 20 12,806,957 12,820,466 RGD:8554872
G LOC108348157 speriolin-like protein JBrowse link 20 13,164,610 13,173,791 RGD:8554872
G Lss lanosterol synthase JBrowse link 20 12,844,522 12,870,474 RGD:8554872
G Mcm3ap minichromosome maintenance complex component 3 associated protein JBrowse link 20 12,879,304 12,917,069 RGD:8554872
G Pcbp3 poly(rC) binding protein 3 JBrowse link 20 12,429,255 12,629,985 RGD:8554872
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:8554872
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
G Pofut2 protein O-fucosyltransferase 2 JBrowse link 20 12,117,811 12,128,747 RGD:8554872
G Prmt2 protein arginine methyltransferase 2 JBrowse link 20 13,154,513 13,212,613 RGD:8554872
G RGD1564149 similar to Protein C21orf58 JBrowse link 20 12,927,310 12,938,891 RGD:8554872
G S100b S100 calcium binding protein B JBrowse link 20 13,130,633 13,142,856 RGD:8554872
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:8554872
G Ybey ybeY metalloendoribonuclease JBrowse link 20 12,917,111 12,926,587 RGD:8554872
Baraitser-Winter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:13592920
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:13592920
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:7240710
RGD:8554872
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:7240710
RGD:8554872
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:8554872
RGD:7240710
blepharophimosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 JBrowse link X 21,474,627 21,603,348 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:8554872
G Snx9 sorting nexin 9 JBrowse link 1 46,780,142 46,826,250 RGD:8554872
G Tmem242 transmembrane protein 242 JBrowse link 1 46,302,546 46,329,885 RGD:8554872
G Zdhhc14 zinc finger, DHHC-type containing 14 JBrowse link 1 46,378,807 46,658,527 RGD:8554872
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:8554872
RGD:11554173
Blepharophimosis Syndrome Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:8554872
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 coatomer protein complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:1598958
RGD:11554173
RGD:8554872
RGD:7240710
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:9588484
RGD:8554872
RGD:7240710
brittle cornea syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:8554872
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:13592920
RGD:8554872
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:13592920
RGD:8554872
Brittle Cornea Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:7240710
RGD:8554872
RGD:11554173
Brittle Cornea Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:7240710
RGD:8554872
buphthalmos 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:7240710
RGD:8554872
RGD:7800719
RGD:7800711
RGD:7800707
RGD:7800689
RGD:7800688
RGD:7800680
RGD:7800670
RGD:7800657
RGD:734869
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:13592920
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:8554872
G Myoc myocilin JBrowse link 13 80,517,531 80,527,928 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:13592920
cataract 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:7240710
RGD:8554872
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:8554872
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hdac6 histone deacetylase 6 JBrowse link X 15,295,372 15,316,673 RGD:7240710
RGD:8554872
COACH Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:7240710
RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:7240710
RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
RGD:11535946
RGD:11535944
CODAS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lonp1 lon peptidase 1, mitochondrial JBrowse link 9 10,428,853 10,441,180 RGD:8554872
RGD:7240710
Cole-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:8554872
RGD:11554173
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:11554173
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:7240710
RGD:8554872
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:7240710
RGD:8554872
coloboma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:11554173
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:11554173
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 JBrowse link 18 51,619,007 51,651,267 RGD:11554173
G Bfsp1 beaded filament structural protein 1 JBrowse link 3 137,935,345 137,992,652 RGD:8554872
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 JBrowse link 5 86,387,238 86,554,108 RGD:8554872
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:8554872
G Fibp FGF1 intracellular binding protein JBrowse link 1 220,840,078 220,844,412 RGD:8554872
G Gdf3 growth differentiation factor 3 JBrowse link 4 155,417,667 155,422,014 RGD:8554872
G Lamb1 laminin subunit beta 1 JBrowse link 6 50,528,796 50,596,593 RGD:11554173
G Mab21l2 mab-21 like 2 JBrowse link 2 185,849,749 185,852,833 RGD:11553846
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
G Rbp4 retinol binding protein 4 JBrowse link 1 256,806,476 256,813,678 RGD:8554872
G Sall2 spalt-like transcription factor 2 JBrowse link 15 28,728,471 28,746,042 RGD:8554872
RGD:7240710
G Slc16a12 solute carrier family 16, member 12 JBrowse link 1 252,976,071 253,054,500 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Yap1 yes-associated protein 1 JBrowse link 8 6,133,014 6,204,240 RGD:8554872
coloboma of optic nerve term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 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
Congenital Nephrotic Syndrome with or without Ocular Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:7207147
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igbp1 immunoglobulin binding protein 1 JBrowse link X 70,322,764 70,345,005 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
Cryptophthalmos, Unilateral or Bilateral, Isolated term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:11554181
RGD:11554185
Desanto-Shinawi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wac WW domain containing adaptor with coiled-coil JBrowse link 17 60,887,606 60,946,630 RGD:8554872
RGD:7240710
Ectopia Lentis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl4 ADAMTS-like 4 JBrowse link 2 197,803,572 197,815,058 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:1580380
RGD:8554872
RGD:12910481
RGD:12910479
RGD:12910140
RGD:12910138
RGD:12904906
RGD:11554173
RGD:1300363
Ectopia Lentis with Ectopia of Pupil term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl4 ADAMTS-like 4 JBrowse link 2 197,803,572 197,815,058 RGD:7240710
RGD:8554872
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asph aspartate-beta-hydroxylase JBrowse link 5 22,577,680 22,799,333 RGD:7240710
RGD:8554872
Foveal Hypoplasia and Anterior Segment Dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc38a8 solute carrier family 38, member 8 JBrowse link 19 52,110,517 52,142,500 RGD:7240710
RGD:8554872
Fraser syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:11554173
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:13592920
G Frem2 Fras1 related extracellular matrix protein 2 JBrowse link 2 142,747,501 142,885,604 RGD:11554173
RGD:8554872
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:8554872
RGD:13592920
Fraser Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:1598960
RGD:8554872
RGD:7240710
G Frem2 Fras1 related extracellular matrix protein 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:8554872
Fraser Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem2 Fras1 related extracellular matrix protein 2 JBrowse link 2 142,747,501 142,885,604 RGD:13464328
RGD:7240710
RGD:8554872
G Frem2fpl Fras1 related extracellular matrix protein 2;fpl mutant RGD:13464328
Fraser Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:8554872
RGD:7240710
Frontonasal Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx1 ALX homeobox 1 JBrowse link 7 44,751,865 44,771,458 RGD:7240710
RGD:8554872
GEMSS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
RGD:7240710
Gillespie Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:8554872
RGD:7240710
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
HEART AND BRAIN MALFORMATION SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smg9 SMG9 nonsense mediated mRNA decay factor JBrowse link 1 81,259,450 81,282,893 RGD:8554872
RGD:7240710
Hereditary Macular Coloboma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 5 166,409,460 166,430,291 RGD:11554173
hydrophthalmos 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:1599716
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:8549773
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8549773
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brpf1 bromodomain and PHD finger containing, 1 JBrowse link 4 145,264,445 145,280,943 RGD:8554872
RGD:7240710
iridogoniodysgenesis syndrome 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:13592920
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:13592920
isolated ectopia lentis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:8554872
isolated microphthalmia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
isolated microphthalmia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
RGD:7240710
isolated microphthalmia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rax retina and anterior neural fold homeobox JBrowse link 18 61,638,352 61,642,056 RGD:7240710
RGD:8554872
isolated microphthalmia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf6 growth differentiation factor 6 JBrowse link 5 23,056,345 23,072,666 RGD:7240710
RGD:8554872
isolated microphthalmia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1qtnf5 C1q and TNF related 5 JBrowse link 8 48,443,515 48,445,639 RGD:8554872
G Mfrp membrane frizzled-related protein JBrowse link 8 48,437,720 48,443,421 RGD:7240710
RGD:8554872
RGD:11553925
isolated microphthalmia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1qtnf5 C1q and TNF related 5 JBrowse link 8 48,443,515 48,445,639 RGD:8554872
G Mfrp membrane frizzled-related protein JBrowse link 8 48,437,720 48,443,421 RGD:8554872
G Prss56 serine protease 56 JBrowse link 9 94,278,981 94,284,111 RGD:7240710
RGD:8554872
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
isolated microphthalmia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf3 growth differentiation factor 3 JBrowse link 4 155,417,667 155,422,014 RGD:7240710
RGD:8554872
isolated microphthalmia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 JBrowse link 1 127,302,920 127,337,828 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Cataract 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:8554872
Isolated Microphthalmia with Coloboma 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbp4 retinol binding protein 4 JBrowse link 1 256,806,476 256,813,678 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Coloboma 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
RGD:7240710
Isolated Microphthalmia with Coloboma 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Coloboma 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf3 growth differentiation factor 3 JBrowse link 4 155,417,667 155,422,014 RGD:7240710
RGD:8554872
G Gdf6 growth differentiation factor 6 JBrowse link 5 23,056,345 23,072,666 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Coloboma 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb6 ATP binding cassette subfamily B member 6 JBrowse link 9 82,373,950 82,382,228 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Coloboma 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tenm3 teneurin transmembrane protein 3 JBrowse link 16 46,422,676 46,929,023 RGD:8554872
RGD:7240710
Joubert syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:8554872
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:8554872
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 37,368,321 37,398,233 RGD:8554872
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
G B9d2 B9 domain containing 2 JBrowse link 1 82,473,254 82,479,704 RGD:8554872
G C2cd3 C2 calcium-dependent domain containing 3 JBrowse link 1 165,382,279 165,480,088 RGD:8554872
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:8554872
G Cplane1 ciliogenesis and planar polarity effector 1 JBrowse link 2
2
57,274,175
57,444,373
57,350,003
57,472,465
RGD:8554872
G Cyb561a3 cytochrome b561 family, member A3 JBrowse link 1 226,620,933 226,642,246 RGD:8554872
G Exoc8 exocyst complex component 8 JBrowse link 19 57,647,305 57,649,794 RGD:8554872
G Fto FTO, alpha-ketoglutarate dependent dioxygenase JBrowse link 19 16,774,549 17,115,098 RGD:8554872
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:8554872
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:7240710
RGD:8554872
RGD:11554173
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
G LOC361646 similar to K04F10.2 JBrowse link 1 197,098,621 197,265,840 RGD:8554872
G Micall2 MICAL-like 2 JBrowse link 12 16,988,013 17,016,794 RGD:8554872
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
G Pibf1 progesterone immunomodulatory binding factor 1 JBrowse link 15 83,494,110 83,663,202 RGD:8554872
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
G Tctn1 tectonic family member 1 JBrowse link 12 39,790,948 39,828,215 RGD:8554872
RGD:11554173
G Tctn2 tectonic family member 2 JBrowse link 12 37,400,896 37,427,256 RGD:8554872
G Tmem138 transmembrane protein 138 JBrowse link 1 226,623,861 226,630,911 RGD:8554872
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:8554872
G Tmem237 transmembrane protein 237 JBrowse link 9 65,882,063 65,917,424 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
Joubert Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:7240710
RGD:8554872
RGD:11561919
Joubert syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:7240710
RGD:8554872
RGD:11535976
RGD:11062645
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:8554872
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
Kahrizi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srd5a3 steroid 5 alpha-reductase 3 JBrowse link 14 34,554,769 34,570,423 RGD:7240710
RGD:8554872
Kaufman Oculocerebrofacial Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Faxc failed axon connections homolog, metaxin like GST domain containing JBrowse link 5 36,076,565 36,135,884 RGD:8554872
G Frem2 Fras1 related extracellular matrix protein 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
G Slc25a47 solute carrier family 25, member 47 JBrowse link 6 132,762,306 132,767,940 RGD:8554872
G Slc6a9 solute carrier family 6 member 9 JBrowse link 5 136,669,674 136,703,702 RGD:8554872
G Trpc4 transient receptor potential cation channel, subfamily C, member 4 JBrowse link 2 143,433,102 143,605,757 RGD:8554872
G Ube3b ubiquitin protein ligase E3B JBrowse link 12 47,946,691 47,991,973 RGD:8554872
RGD:7240710
RGD:11554173
Marden Walker Like Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scarf2 scavenger receptor class F, member 2 JBrowse link 11 87,722,350 87,733,734 RGD:7240710
RGD:8554872
Marden-Walker Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:7240710
RGD:8554872
Marles Greenberg Persaud Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:7240710
RGD:8554872
RGD:11070482
RGD:11554173
Matthew-Wood syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 JBrowse link 1 127,302,920 127,337,828 RGD:8554872
G Stra6 stimulated by retinoic acid 6 JBrowse link 8 62,925,364 62,944,438 RGD:7240710
RGD:8554872
RGD:11554173
G Wnt7b Wnt family member 7B JBrowse link 7 126,423,418 126,465,724 RGD:8554872
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif11 kinesin family member 11 JBrowse link 1 256,035,866 256,088,299 RGD:7240710
RGD:8554872
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snx3 sorting nexin 3 JBrowse link 20 47,225,382 47,263,390 RGD:7240710
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 JBrowse link 19 46,005,055 46,167,912 RGD:7240710
RGD:8554872
microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgap6 Rho GTPase activating protein 6 JBrowse link X 26,314,561 26,845,242 RGD:13592920
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:13592920
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:13592920
RGD:8554872
G C1qtnf5 C1q and TNF related 5 JBrowse link 8 48,443,515 48,445,639 RGD:8554872
G Cox7b cytochrome c oxidase subunit 7B JBrowse link X 77,065,427 77,071,676 RGD:13592920
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:11554173
G Fancd2 FA complementation group D2 JBrowse link 4 145,489,869 145,551,479 RGD:11344906
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:2293186
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub RGD:2293186
G Hccs holocytochrome c synthase JBrowse link X 26,294,028 26,303,461 RGD:1600417
RGD:13592920
G Hmx1 H6 family homeobox 1 JBrowse link 14 80,540,558 80,544,607 RGD:11554173
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:12793059
G Mfrp membrane frizzled-related protein JBrowse link 8 48,437,720 48,443,421 RGD:11553922
RGD:8554872
RGD:13592920
G Mid1 midline 1 JBrowse link X 25,458,782 25,839,941 RGD:13592920
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link X 1,787,266 1,789,524 RGD:13592920
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
G Otx2 orthodenticle homeobox 2 JBrowse link 15 25,500,037 25,511,619 RGD:13592920
RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8552240
RGD:8554872
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:11535071
RGD:11554173
G Prss56 serine protease 56 JBrowse link 9 94,278,981 94,284,111 RGD:11554173
G Ralbp1 ralA binding protein 1 JBrowse link 9 113,579,107 113,598,477 RGD:13592920
G Rax retina and anterior neural fold homeobox JBrowse link 18 61,638,352 61,642,056 RGD:8554872
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:8554872
RGD:13592920
G Sox2 SRY box 2 JBrowse link 2 121,165,137 121,167,545 RGD:13592920
G Stau2 staufen double-stranded RNA binding protein 2 JBrowse link 5 2,257,910 2,497,429 RGD:10043154
G Stra6 stimulated by retinoic acid 6 JBrowse link 8 62,925,364 62,944,438 RGD:11554173
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:8554872
G Tmem98 transmembrane protein 98 JBrowse link 10 68,173,380 68,184,289 RGD:13592920
Microphthalmia, Cataracts, and Iris Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:12880033
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
Microphthalmia, Syndromic 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam17 ADAM metallopeptidase domain 17 JBrowse link 6 43,400,525 43,448,280 RGD:8554872
G Arr3 arrestin 3 JBrowse link X 70,438,590 70,452,140 RGD:8554872
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:1600504
RGD:8554872
RGD:11554173
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:8554872
G Cep83 centrosomal protein 83 JBrowse link 7 35,739,553 35,847,618 RGD:8554872
G Chrd chordin JBrowse link 11 83,858,503 83,867,543 RGD:8554872
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 JBrowse link 1 256,369,410 256,380,649 RGD:8554872
G Dicer1 dicer 1 ribonuclease III JBrowse link 6 128,388,084 128,453,234 RGD:8554872
G Efhd1 EF-hand domain family, member D1 JBrowse link 9 94,362,249 94,408,884 RGD:8554872
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:8554872
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:8554872
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:8554872
G Grasp general receptor for phosphoinositides 1 associated scaffold protein JBrowse link 7 142,869,785 142,877,551 RGD:8554872
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:8554872
G Krtcap3 keratinocyte associated protein 3 JBrowse link 6 26,485,126 26,486,695 RGD:8554872
G Map3k1 mitogen-activated protein kinase kinase kinase 1 JBrowse link 2 43,329,516 43,393,203 RGD:8554872
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:8554872
G Myo1c myosin 1C JBrowse link 10 63,803,311 63,819,614 RGD:8554872
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:7240710
RGD:8554872
G Ndst2 N-deacetylase and N-sulfotransferase 2 JBrowse link 15 3,995,797 4,006,491 RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
G Notch4 notch receptor 4 JBrowse link 20 4,329,794 4,353,868 RGD:8554872
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 JBrowse link 13 53,750,470 53,870,288 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
G Pfkp phosphofructokinase, platelet JBrowse link 17 68,510,765 68,574,387 RGD:8554872
G Plxnc1 plexin C1 JBrowse link 7 35,848,083 36,000,969 RGD:8554872
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
G Rax retina and anterior neural fold homeobox JBrowse link 18 61,638,352 61,642,056 RGD:8554872
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:8554872
G Sall3 spalt-like transcription factor 3 JBrowse link 18 77,572,200 77,591,710 RGD:8554872
G Sez6l2 seizure related 6 homolog like 2 JBrowse link 1 198,383,201 198,403,544 RGD:8554872
G Sfrp2 secreted frizzled-related protein 2 JBrowse link 2 182,723,732 182,731,277 RGD:8554872
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:8554872
G Sox14 SRY box 14 JBrowse link 8 108,107,865 108,109,801 RGD:8554872
G Stra6 stimulated by retinoic acid 6 JBrowse link 8 62,925,364 62,944,438 RGD:8554872
G Sulf1 sulfatase 1 JBrowse link 5 5,999,520 6,186,901 RGD:8554872
G Tshz2 teashirt zinc finger homeobox 2 JBrowse link 3 166,469,752 166,748,558 RGD:8554872
G Vax2 ventral anterior homeobox 2 JBrowse link 4 115,388,839 115,412,515 RGD:8554872
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
G Wnt7a Wnt family member 7A JBrowse link 4 122,994,425 123,040,609 RGD:8554872
Microphthalmia, Syndromic 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vax1 ventral anterior homeobox 1 JBrowse link 1 280,334,897 280,338,813 RGD:7240710
RGD:8554872
Microphthalmia, Syndromic 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rarb retinoic acid receptor, beta JBrowse link 15 9,915,223 10,262,599 RGD:7240710
RGD:8554872
Microphthalmia, Syndromic 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmgb3 high mobility group box 3 JBrowse link 17 36,690,190 36,694,329 RGD:7240710
RGD:8554872
Microphthalmia, Syndromic 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:7240710
RGD:8554872
RGD:11554173
Microphthalmia, Syndromic 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:11554173
G Sox2 SRY box 2 JBrowse link 2 121,165,137 121,167,545 RGD:7240710
RGD:8554872
Microphthalmia, Syndromic 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otx2 orthodenticle homeobox 2 JBrowse link 15 25,500,037 25,511,619 RGD:8554872
RGD:7240710
G Wnt7b Wnt family member 7B JBrowse link 7 126,423,418 126,465,724 RGD:8554872
Microphthalmia, Syndromic 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:7240710
RGD:8554872
Microphthalmia, Syndromic 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox7b cytochrome c oxidase subunit 7B JBrowse link X 77,065,427 77,071,676 RGD:11554173
G Hccs holocytochrome c synthase JBrowse link X 26,294,028 26,303,461 RGD:7240710
RGD:8554872
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link X 1,787,266 1,789,524 RGD:11554173
RGD:8554872
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrba LPS responsive beige-like anchor protein JBrowse link 2 185,590,983 186,110,491 RGD:8554872
G Mab21l2 mab-21 like 2 JBrowse link 2 185,849,749 185,852,833 RGD:8554872
RGD:7240710
Microspherophakia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:8554872
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:7240710
Nanophthalmos 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1qtnf5 C1q and TNF related 5 JBrowse link 8 48,443,515 48,445,639 RGD:8554872
G Mfrp membrane frizzled-related protein JBrowse link 8 48,437,720 48,443,421 RGD:7240710
RGD:8554872
Nanophthalmos 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem98 transmembrane protein 98 JBrowse link 10 68,173,380 68,184,289 RGD:7240710
RGD:8554872
Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zdbf2 zinc finger, DBF-type containing 2 JBrowse link 9 70,052,088 70,090,847 RGD:8554872
nephrotic syndrome type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lamb2 laminin subunit beta 2 JBrowse link 8 117,268,335 117,280,517 RGD:7240710
RGD:8554872
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rere arginine-glutamic acid dipeptide repeats JBrowse link 5 167,330,966 167,664,506 RGD:8554872
RGD:7240710
oculoauricular syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmx1 H6 family homeobox 1 JBrowse link 14 80,540,558 80,544,607 RGD:7240710
RGD:8554872
oculodentodigital dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:1578474
RGD:8554872
RGD:12910132
RGD:8662400
RGD:8662375
RGD:8662372
RGD:7240710
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:7240710
RGD:8554872
Oculomaxillofacial Dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like JBrowse link 20 14,287,470 14,393,879 RGD:7240710
RGD:8554872
Ohdo syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:11554173
Ohdo Syndrome, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
RGD:12910951
persistent hyperplastic primary vitreous term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atoh7 atonal bHLH transcription factor 7 JBrowse link 20 27,082,961 27,083,410 RGD:13592920
G Cdkn2a cyclin-dependent kinase inhibitor 2A JBrowse link 5 107,823,323 107,832,405 RGD:8552304
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8551891
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atoh7 atonal bHLH transcription factor 7 JBrowse link 20 27,082,961 27,083,410 RGD:7240710
RGD:8554872
G Tspan12 tetraspanin 12 JBrowse link 4 48,852,823 48,953,240 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 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
Pierson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn2a cyclin-dependent kinase inhibitor 2A JBrowse link 5 107,823,323 107,832,405 RGD:8554872
G Lamb2 laminin subunit beta 2 JBrowse link 8 117,268,335 117,280,517 RGD:7207425
RGD:8554872
RGD:11554173
RGD:7240710
G Tns2 tensin 2 JBrowse link 7 143,702,623 143,720,995 RGD:13592920
popliteal pterygium syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:7240710
RGD:8554872
G Ripk4 receptor-interacting serine-threonine kinase 4 JBrowse link 11 38,251,991 38,274,234 RGD:8554872
RGD:13592920
Popliteal Pterygium Syndrome, Lethal Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ripk4 receptor-interacting serine-threonine kinase 4 JBrowse link 11 38,251,991 38,274,234 RGD:7240710
RGD:8554872
renal coloboma syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax2 paired box 2 JBrowse link 1 264,493,579 264,585,073 RGD:7240710
RGD:8554872
Retinal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crb1 crumbs cell polarity complex component 1 JBrowse link 13 56,270,519 56,462,893 RGD:8552698
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mir204 microRNA 204 JBrowse link 1 240,403,000 240,403,109 RGD:7240710
RGD:8554872
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 JBrowse link 1 239,741,572 240,757,583 RGD:8554872
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbp4 retinol binding protein 4 JBrowse link 1 256,806,476 256,813,678 RGD:7240710
RGD:8554872
Stromme syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpf centromere protein F JBrowse link 13 108,132,499 108,178,609 RGD:8554872
RGD:7240710
Temtamy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grcc10 gene rich cluster, C10 gene JBrowse link 4 157,264,383 157,266,042 RGD:7240710
RGD:8554872
Uveal Coloboma, with Cleft Lip and Palate and Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yap1 yes-associated protein 1 JBrowse link 8 6,133,014 6,204,240 RGD:7240710
RGD:8554872
WAGR syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
RGD:11554173
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:1331525
RGD:8554872
RGD:11554173
Zunich Neuroectodermal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L JBrowse link 10 48,774,018 48,831,848 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      eye and adnexa disease 1985
        eye disease 1985
          Eye Abnormalities 283
            3MC syndrome 1 15
            Ankyloblepharon Filiforme Adnatum 0
            Anophthalmia + 46
            Asymmetric Short Stature Syndrome 0
            Axenfeld-Rieger syndrome + 30
            Basel-Vanagaite-Smirin-Yosef syndrome 1
            Blue Diaper Syndrome 0
            Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 0
            CODAS Syndrome 1
            Chemke Oliver Mallek Syndrome 0
            Cole-Carpenter syndrome + 2
            Colobomatous Macrophthalmia with Microcornea 0
            Congenital Nephrotic Syndrome with or without Ocular Abnormalities + 2
            Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 1
            Craniosynostosis with Ocular Abnormalities and Hallucal Defects 0
            Cryptophthalmos, Unilateral or Bilateral, Isolated 1
            De Hauwere syndrome 0
            Desanto-Shinawi Syndrome 1
            Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities 0
            Dwarfism Stiff Joint Ocular Abnormalities 0
            Ectopia Lentis + 4
            Egg-Shaped Pupil 0
            FACES Syndrome 0
            Foveal Hypoplasia and Anterior Segment Dysgenesis 1
            Fraser syndrome + 5
            Fronto-Facio-Nasal Dysplasia 0
            Frontoocular Syndrome 0
            Goniodysgenesis-Mental Retardation-Short Stature Syndrome 0
            Iridogoniodysgenesis and Skeletal Anomalies 0
            Joubert Syndrome 2 1
            Joubert syndrome 1 31
            Joubert syndrome 9 6
            Kapur Toriello Syndrome 0
            MOMES Syndrome 0
            Maxillofacial Dysostosis 0
            Microcornea, Glaucoma, and Absent Frontal Sinuses 0
            Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
            NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART 1
            Nephrotic Syndrome with Ocular Anomalies 0
            Oculoauriculofrontonasal syndrome 0
            Oculocerebrocutaneous Syndrome 0
            Oculodentodigital Dysplasia, Autosomal Recessive 1
            Oculomaxillofacial Dysostosis 1
            Oculopalatocerebral Syndrome 0
            Oculorenocerebellar Syndrome 0
            PHACE Association 0
            Pena Shokeir Syndrome Type 2 0
            Pierson syndrome 3
            Prepapillary Vascular Loops 0
            Pupillary Membrane, Persistence of 0
            Retinal Dysplasia + 2
            Rozin Hertz Goodman Syndrome 0
            Schmid-Fraccaro Syndrome 0
            Stromme syndrome 1
            ablepharon macrostomia syndrome 1
            aniridia + 23
            ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
            anterior segment mesenchymal dysgenesis + 21
            blepharophimosis + 20
            brittle cornea syndrome + 3
            chromosome 6pter-p24 deletion syndrome 0
            coloboma + 37
            hydrophthalmos + 8
            iridogoniodysgenesis syndrome + 2
            microphthalmia + 89
            oculoauricular syndrome 1
            oculodentodigital dysplasia + 1
            persistent hyperplastic primary vitreous + 4
            popliteal pterygium syndrome + 2
            torsion dystonia with onset in infancy 0
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          eye and adnexa disease 1985
            eye disease 1985
              Eye Abnormalities 283
                3MC syndrome 1 15
                Ankyloblepharon Filiforme Adnatum 0
                Anophthalmia + 46
                Asymmetric Short Stature Syndrome 0
                Axenfeld-Rieger syndrome + 30
                Basel-Vanagaite-Smirin-Yosef syndrome 1
                Blue Diaper Syndrome 0
                Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 0
                CODAS Syndrome 1
                Chemke Oliver Mallek Syndrome 0
                Cole-Carpenter syndrome + 2
                Colobomatous Macrophthalmia with Microcornea 0
                Congenital Nephrotic Syndrome with or without Ocular Abnormalities + 2
                Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 1
                Craniosynostosis with Ocular Abnormalities and Hallucal Defects 0
                Cryptophthalmos, Unilateral or Bilateral, Isolated 1
                De Hauwere syndrome 0
                Desanto-Shinawi Syndrome 1
                Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities 0
                Dwarfism Stiff Joint Ocular Abnormalities 0
                Ectopia Lentis + 4
                Egg-Shaped Pupil 0
                FACES Syndrome 0
                Foveal Hypoplasia and Anterior Segment Dysgenesis 1
                Fraser syndrome + 5
                Fronto-Facio-Nasal Dysplasia 0
                Frontoocular Syndrome 0
                Goniodysgenesis-Mental Retardation-Short Stature Syndrome 0
                Iridogoniodysgenesis and Skeletal Anomalies 0
                Joubert Syndrome 2 1
                Joubert syndrome 1 31
                Joubert syndrome 9 6
                Kapur Toriello Syndrome 0
                MOMES Syndrome 0
                Maxillofacial Dysostosis 0
                Microcornea, Glaucoma, and Absent Frontal Sinuses 0
                Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
                NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART 1
                Nephrotic Syndrome with Ocular Anomalies 0
                Oculoauriculofrontonasal syndrome 0
                Oculocerebrocutaneous Syndrome 0
                Oculodentodigital Dysplasia, Autosomal Recessive 1
                Oculomaxillofacial Dysostosis 1
                Oculopalatocerebral Syndrome 0
                Oculorenocerebellar Syndrome 0
                PHACE Association 0
                Pena Shokeir Syndrome Type 2 0
                Pierson syndrome 3
                Prepapillary Vascular Loops 0
                Pupillary Membrane, Persistence of 0
                Retinal Dysplasia + 2
                Rozin Hertz Goodman Syndrome 0
                Schmid-Fraccaro Syndrome 0
                Stromme syndrome 1
                ablepharon macrostomia syndrome 1
                aniridia + 23
                ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
                anterior segment mesenchymal dysgenesis + 21
                blepharophimosis + 20
                brittle cornea syndrome + 3
                chromosome 6pter-p24 deletion syndrome 0
                coloboma + 37
                hydrophthalmos + 8
                iridogoniodysgenesis syndrome + 2
                microphthalmia + 89
                oculoauricular syndrome 1
                oculodentodigital dysplasia + 1
                persistent hyperplastic primary vitreous + 4
                popliteal pterygium syndrome + 2
                torsion dystonia with onset in infancy 0
paths to the root

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