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ONTOLOGY REPORT - ANNOTATIONS


Term:cataract
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Accession:DOID:83 term browser browse the term
Definition:Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)
Synonyms:exact_synonym: Cataracts;   Lens Opacification;   Lens Opacities;   Lens Opacity;   Membranous Cataract;   Membranous Cataracts;   Pseudoaphakia;   Pseudoaphakias
 narrow_synonym: CONGENITAL NUCLEAR CATARACT;   CORTICAL PULVERULENT CATARACT;   Cataract, Congenital
 primary_id: MESH:D002386
 alt_id: RDO:0000251
 xref: OMIM:PS116200
For additional species annotation, visit the Alliance of Genome Resources.


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cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam10 ADAM metallopeptidase domain 10 JBrowse link 8 77,107,355 77,237,483 RGD:13703031
G Agk acylglycerol kinase JBrowse link 4 68,483,345 68,561,518 RGD:8554872
G Akr1b1 aldo-keto reductase family 1 member B JBrowse link 4 61,706,866 61,720,959 RGD:1626083
RGD:11554173
RGD:8548672
RGD:8548671
RGD:8548638
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:13434923
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 JBrowse link 10 47,490,168 47,499,855 RGD:11554173
G Anxa1 annexin A1 JBrowse link 1 237,893,983 237,910,002 RGD:7421556
RGD:7421566
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:11554173
G Atp2b1 ATPase plasma membrane Ca2+ transporting 1 JBrowse link 7 41,114,606 41,223,138 RGD:11554173
G B2m beta-2 microglobulin JBrowse link 3 114,087,287 114,093,311 RGD:2311237
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:8554872
G Bfsp2 beaded filament structural protein 2 JBrowse link 8 111,908,614 111,965,889 RGD:8554872
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:1599505
G Casp3 caspase 3 JBrowse link 16 48,845,011 48,863,249 RGD:13782357
G Casp9 caspase 9 JBrowse link 5 160,356,211 160,373,774 RGD:13782357
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9068905
RGD:9068911
RGD:9068909
G Cck cholecystokinin JBrowse link 8 130,120,525 130,127,515 RGD:2313636
G Ccl11 C-C motif chemokine ligand 11 JBrowse link 10 69,434,965 69,439,566 RGD:7248415
G Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation RGD:2293616
G Clock clock circadian regulator JBrowse link 14 34,418,226 34,502,218 RGD:10401871
G Col18a1 collagen type XVIII alpha 1 chain JBrowse link 20 12,225,202 12,332,858 RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:11554173
G Cryaa crystallin, alpha A JBrowse link 20 10,438,444 10,442,189 RGD:1600993
RGD:13503352
RGD:8554872
RGD:11554173
RGD:1600984
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:8554872
RGD:13503352
RGD:11554173
G Cryba1 crystallin, beta A1 JBrowse link 10 65,160,777 65,167,504 RGD:10059634
RGD:10059653
RGD:10059642
RGD:10059641
G Cryba4 crystallin, beta A4 JBrowse link 12 50,407,843 50,414,434 RGD:2303653
RGD:8554872
G Crybb1 crystallin, beta B1 JBrowse link 12 50,390,939 50,404,550 RGD:728217
RGD:8554872
RGD:11554173
G Crybb2 crystallin, beta B2 JBrowse link 12 49,577,580 49,588,555 RGD:1601011
RGD:8554872
RGD:734832
G Crybb3 crystallin, beta B3 JBrowse link 12 49,564,991 49,571,008 RGD:8554872
G Cryga crystallin, gamma A JBrowse link 9 71,828,308 71,855,900 RGD:8554872
RGD:13592920
G Crygc crystallin, gamma C JBrowse link 9 71,786,246 71,788,281 RGD:1601015
RGD:11554173
RGD:8554872
G Crygd crystallin, gamma D JBrowse link 9 71,776,568 71,778,323 RGD:1298817
RGD:8554872
RGD:11554173
G Crygs crystallin, gamma S JBrowse link 11 81,796,891 81,802,172 RGD:8554872
RGD:11554173
G Cth cystathionine gamma-lyase JBrowse link 2 264,266,959 264,293,040 RGD:1600763
G Dennd11 DENN domain containing 11 JBrowse link 4 68,569,308 68,597,626 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:12879865
G Dnase2b deoxyribonuclease 2 beta JBrowse link 2 252,436,363 252,475,506 RGD:13592920
G Epha2 Eph receptor A2 JBrowse link 5 159,845,773 159,874,203 RGD:8554872
G Epm2a EPM2A glucan phosphatase, laforin JBrowse link 1 5,448,958 5,571,512 RGD:8554872
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:12880390
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:11554173
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:2315757
G Fbxl8 F-box and leucine-rich repeat protein 8 JBrowse link 19 37,216,696 37,225,701 RGD:8554872
G Fdft1 farnesyl diphosphate farnesyl transferase 1 JBrowse link 15 46,339,248 46,367,302 RGD:1626611
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:8554856
G Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 JBrowse link 8 132,844,042 132,910,905 RGD:8554872
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:10449123
G Galk1 galactokinase 1 JBrowse link 10 104,560,322 104,564,499 RGD:1300192
RGD:11554173
G Gclc glutamate-cysteine ligase, catalytic subunit JBrowse link 8 85,059,051 85,097,471 RGD:13592920
G Gcnt2 glucosaminyl (N-acetyl) transferase 2 (I blood group) JBrowse link 17 21,634,546 21,677,477 RGD:8693611
RGD:8554872
G Gemin4 gem (nuclear organelle) associated protein 4 JBrowse link 10 64,364,808 64,375,885 RGD:8554872
G Gja3 gap junction protein, alpha 3 JBrowse link 15 37,298,607 37,325,370 RGD:1599824
RGD:8554872
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:629571
RGD:8554872
RGD:11554173
G Gja8m1Cas gap junction protein, alpha 8; mutant 1 Cas RGD:629571
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:11353787
G Gsr glutathione-disulfide reductase JBrowse link 16 62,197,617 62,239,987 RGD:1600697
RGD:10401885
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:7488949
RGD:7488950
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:7794821
RGD:7794839
G Hsf4 heat shock transcription factor 4 JBrowse link 19 37,225,800 37,232,048 RGD:1599774
RGD:8554872
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:8554872
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8157612
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:8655879
RGD:8655881
G Lim2 lens intrinsic membrane protein 2 JBrowse link 1 98,495,082 98,501,248 RGD:1600309
RGD:8554872
RGD:11554173
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:1547889
RGD:13204738
RGD:13204737
RGD:8554872
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:12801446
G Miat myocardial infarction associated transcript JBrowse link 12 50,447,251 50,461,859 RGD:8554872
G Mip major intrinsic protein of lens fiber JBrowse link 7 2,635,743 2,642,995 RGD:1599936
RGD:8554872
RGD:11554173
G Mir221 microRNA 221 JBrowse link X 3,684,480 3,684,588 RGD:11554173
G Mmaa metabolism of cobalamin associated A JBrowse link 19 32,294,087 32,325,927 RGD:8554872
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:8693669
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:7387253
G Ndrg2 NDRG family member 2 JBrowse link 15 28,305,820 28,314,459 RGD:11554173
G Nectin3 nectin cell adhesion molecule 3 JBrowse link 11 57,897,879 57,995,193 RGD:8554872
G Nfe2l2 nuclear factor, erythroid 2-like 2 JBrowse link 3 62,497,568 62,525,146 RGD:6893326
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:8554872
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 JBrowse link 18 31,728,373 32,704,022 RGD:4892118
G Ocrl OCRL, inositol polyphosphate-5-phosphatase JBrowse link X 134,742,226 134,793,411 RGD:8554872
G Ogg1 8-oxoguanine DNA glycosylase JBrowse link 4 145,282,828 145,289,367 RGD:8657151
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8552253
RGD:11554173
RGD:8554872
RGD:8552372
G Pex11b peroxisomal biogenesis factor 11 beta JBrowse link 2 198,762,138 198,771,040 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
RGD:11554173
RGD:11535076
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:8547553
G Psmc3 proteasome 26S subunit, ATPase 3 JBrowse link 3 79,876,938 79,882,319 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:12859033
G Pxdn peroxidasin JBrowse link 6 48,866,496 48,982,368 RGD:8554872
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:8554872
G Slc16a12 solute carrier family 16, member 12 JBrowse link 1 252,976,071 253,054,500 RGD:8554872
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:8554872
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:12801446
G Slc2a3 solute carrier family 2 member 3 JBrowse link 4 155,549,991 155,626,018 RGD:2313618
G Slc33a1 solute carrier family 33 member 1 JBrowse link 2 154,520,170 154,542,981 RGD:11554173
G Slc4a4 solute carrier family 4 member 4 JBrowse link 14 20,476,258 20,817,042 RGD:11554173
G Slc9a1 solute carrier family 9 member A1 JBrowse link 5 151,573,122 151,626,360 RGD:8693684
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:2312362
RGD:8655573
RGD:8655570
RGD:1581192
G Sord sorbitol dehydrogenase JBrowse link 3 114,176,127 114,207,368 RGD:13592920
G Taldo1 transaldolase 1 JBrowse link 1 214,375,555 214,385,886 RGD:8554872
G Tdrd7 tudor domain containing 7 JBrowse link 5 61,557,909 61,631,719 RGD:11554173
RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8547757
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay JBrowse link X 123,713,327 123,731,431 RGD:8554872
G Vim vimentin JBrowse link 17 80,882,715 80,891,200 RGD:11554173
RGD:8554872
G Xdh xanthine dehydrogenase JBrowse link 6 25,149,570 25,211,273 RGD:13208958
G Xrcc1 X-ray repair cross complementing 1 JBrowse link 1 81,412,635 81,441,680 RGD:10401127
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clpb ClpB homolog, mitochondrial AAA ATPase chaperonin JBrowse link 1 166,739,372 166,866,095 RGD:7240710
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
Ayme-Gripp Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
RGD:7240710
cataract 1 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja3 gap junction protein, alpha 3 JBrowse link 15 37,298,607 37,325,370 RGD:8554872
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:7240710
RGD:8554872
RGD:2293186
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub RGD:2293186
cataract 10 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryba1 crystallin, beta A1 JBrowse link 10 65,160,777 65,167,504 RGD:7240710
RGD:8554872
RGD:734831
cataract 11 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:7240710
RGD:8554872
RGD:11554173
cataract 12 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bfsp2 beaded filament structural protein 2 JBrowse link 8 111,908,614 111,965,889 RGD:7240710
RGD:8554872
cataract 13 with adult i phenotype term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gcnt2 glucosaminyl (N-acetyl) transferase 2 (I blood group) JBrowse link 17 21,634,546 21,677,477 RGD:7240710
RGD:8554872
cataract 14 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja3 gap junction protein, alpha 3 JBrowse link 15 37,298,607 37,325,370 RGD:7240710
RGD:8554872
cataract 15 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mip major intrinsic protein of lens fiber JBrowse link 7 2,635,743 2,642,995 RGD:7240710
RGD:8554872
cataract 16 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:7240710
RGD:8554872
cataract 17 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryba4 crystallin, beta A4 JBrowse link 12 50,407,843 50,414,434 RGD:8554872
G Crybb1 crystallin, beta B1 JBrowse link 12 50,390,939 50,404,550 RGD:7240710
RGD:8554872
cataract 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 JBrowse link 8 132,844,042 132,910,905 RGD:7240710
RGD:8554872
cataract 19 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lim2 lens intrinsic membrane protein 2 JBrowse link 1 98,495,082 98,501,248 RGD:7240710
RGD:8554872
cataract 2 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crygc crystallin, gamma C JBrowse link 9 71,786,246 71,788,281 RGD:7240710
RGD:8554872
G Crygd crystallin, gamma D JBrowse link 9 71,776,568 71,778,323 RGD:13592920
cataract 20 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crygs crystallin, gamma S JBrowse link 11 81,796,891 81,802,172 RGD:7240710
RGD:8554872
cataract 21 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dynlrb2 dynein light chain roadblock-type 2 JBrowse link 19 49,016,919 49,028,400 RGD:8554872
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:7240710
RGD:8554872
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:8554872
cataract 22 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crybb3 crystallin, beta B3 JBrowse link 12 49,564,991 49,571,008 RGD:7240710
RGD:8554872
cataract 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryba4 crystallin, beta A4 JBrowse link 12 50,407,843 50,414,434 RGD:7240710
RGD:8554872
cataract 27 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:8552277
cataract 3 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crybb2 crystallin, beta B2 JBrowse link 12 49,577,580 49,588,555 RGD:7240710
RGD:8554872
cataract 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crygc crystallin, gamma C JBrowse link 9 71,786,246 71,788,281 RGD:8554872
G Vim vimentin JBrowse link 17 80,882,715 80,891,200 RGD:7240710
RGD:8554872
cataract 31 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chmp4b charged multivesicular body protein 4B JBrowse link 3 150,188,275 150,227,453 RGD:7240710
RGD:8554872
cataract 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bfsp1 beaded filament structural protein 1 JBrowse link 3 137,935,345 137,992,652 RGD:7240710
RGD:8554872
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:734947
cataract 34 multiple types 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:8554872
RGD:7240710
cataract 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tdrd7 tudor domain containing 7 JBrowse link 5 61,557,909 61,631,719 RGD:7240710
RGD:8554872
cataract 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agk acylglycerol kinase JBrowse link 4 68,483,345 68,561,518 RGD:7240710
RGD:8554872
cataract 39 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crygb crystallin, gamma B JBrowse link 9 71,796,204 71,798,265 RGD:7240710
RGD:8554872
cataract 4 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crygd crystallin, gamma D JBrowse link 9 71,776,568 71,778,323 RGD:7240710
RGD:8554872
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
cataract 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:7240710
RGD:8554872
cataract 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryba2 crystallin, beta A2 JBrowse link 9 82,151,056 82,154,266 RGD:7240710
cataract 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Unc45b unc-45 myosin chaperone B JBrowse link 10 70,262,340 70,290,445 RGD:8554872
RGD:7240710
cataract 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lss lanosterol synthase JBrowse link 20 12,844,522 12,870,474 RGD:8554872
RGD:7240710
cataract 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sipa1l3 signal-induced proliferation-associated 1 like 3 JBrowse link 1 87,260,832 87,467,846 RGD:8554872
RGD:7240710
cataract 46 juvenile-onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lemd2 LEM domain containing 2 JBrowse link 20 5,779,742 5,786,213 RGD:7240710
Cataract 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmbp dynamin binding protein JBrowse link 1 263,625,503 263,718,784 RGD:7240710
RGD:8554872
cataract 5 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsf4 heat shock transcription factor 4 JBrowse link 19 37,225,800 37,232,048 RGD:7240710
RGD:8554872
cataract 6 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epha2 Eph receptor A2 JBrowse link 5 159,845,773 159,874,203 RGD:7240710
RGD:8554872
cataract 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crybb2 crystallin, beta B2 JBrowse link 12 49,577,580 49,588,555 RGD:11554173
G Crygd crystallin, gamma D JBrowse link 9 71,776,568 71,778,323 RGD:1601016
cataract 9 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryaa crystallin, alpha A JBrowse link 20 10,438,444 10,442,189 RGD:7240710
RGD:8554872
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:737764
Cataract Hutterite Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lemd2 LEM domain containing 2 JBrowse link 20 5,779,742 5,786,213 RGD:8554872
Cataract Microcornea Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:11554173
RGD:8554872
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:13204740
Cataract, Autosomal Dominant Nuclear term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryba1 crystallin, beta A1 JBrowse link 10 65,160,777 65,167,504 RGD:10059633
RGD:10059638
G Gja3 gap junction protein, alpha 3 JBrowse link 15 37,298,607 37,325,370 RGD:1578473
Cataract, Lamellar 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryba4 crystallin, beta A4 JBrowse link 12 50,407,843 50,414,434 RGD:8554872
Cataract, Sutural, with Punctate and Cerulean Opacities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crybb2 crystallin, beta B2 JBrowse link 12 49,577,580 49,588,555 RGD:8554872
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:7240710
RGD:8554872
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:1601070
RGD:8554872
RGD:7240710
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:7240710
RGD:8554872
Congenital Cataracts, Facial Dysmorphism, and Neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctdp1 CTD phosphatase subunit 1 JBrowse link 18 76,922,913 76,985,095 RGD:7240710
RGD:8554872
Congenital Cataracts, Hearing Loss, and Neurodegeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc33a1 solute carrier family 33 member 1 JBrowse link 2 154,520,170 154,542,981 RGD:7240710
RGD:8554872
congenital muscular dystrophy with cataracts and intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Inpp5k inositol polyphosphate-5-phosphatase K JBrowse link 10 63,775,639 63,796,879 RGD:8554872
RGD:7240710
cortical senile cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epha2 Eph receptor A2 JBrowse link 5 159,845,773 159,874,203 RGD:8554872
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:8554872
RGD:7240710
Crystalline Aculeiform Cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crygd crystallin, gamma D JBrowse link 9 71,776,568 71,778,323 RGD:8554872
diabetic cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gsr glutathione-disulfide reductase JBrowse link 16 62,197,617 62,239,987 RGD:10401829
Edict Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mir184 microRNA 184 JBrowse link 8 97,175,657 97,175,733 RGD:7240710
RGD:8554872
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jam3 junctional adhesion molecule 3 JBrowse link 8 28,147,110 28,208,466 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 9A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:7240710
RGD:8554872
RGD:11056004
hyperferritinemia-cataract syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ftl1 ferritin light chain 1 JBrowse link 1 101,448,190 101,450,034 RGD:1598966
RGD:8554872
RGD:7240710
RGD:5509864
G Gys1 glycogen synthase 1 JBrowse link 1 101,427,195 101,447,092 RGD:8554872
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam126a family with sequence similarity 126, member A JBrowse link 4 7,661,710 7,770,179 RGD:7240710
RGD:8554872
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gls glutaminase JBrowse link 9 54,212,622 54,284,879 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
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itm2b integral membrane protein 2B JBrowse link 15 55,254,703 55,277,713 RGD:7240710
RGD:8554872
Juvenile Cataract, with Microcornea and Glucosuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc16a12 solute carrier family 16, member 12 JBrowse link 1 252,976,071 253,054,500 RGD:7240710
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
Lipodystrophy with Congenital Cataracts and Neurodegeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:7240710
RGD:8554872
Marinesco-Sjogren syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sil1 SIL1 nucleotide exchange factor JBrowse link 18 28,067,476 28,302,008 RGD:13592920
RGD:8554872
Marshall Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:1600881
RGD:8554872
RGD:11554173
RGD:7240710
Marshall/Stickler Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:8554872
Martsolf syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 13 44,578,208 44,649,876 RGD:8554872
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 RGD:7240710
RGD:8554872
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcna4 potassium voltage-gated channel subfamily A member 4 JBrowse link 3 98,293,295 98,300,763 RGD:8554872
RGD:7240710
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msmo1 methylsterol monooxygenase 1 JBrowse link 16 26,859,441 26,875,880 RGD:8554872
RGD:7240710
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 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
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfer growth factor, augmenter of liver regeneration JBrowse link 10 14,059,347 14,061,703 RGD:7240710
RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
myofibrillar myopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:7240710
RGD:8554872
Myopia, High, with Cataract and Vitreoretinal Degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P3h2 prolyl 3-hydroxylase 2 JBrowse link 11 78,028,885 78,169,746 RGD:7240710
RGD:8554872
Nance-Horan syndrome 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:1598795
RGD:8554872
RGD:7240710
NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ints1 integrator complex subunit 1 JBrowse link 12 16,950,704 16,974,896 RGD:8554872
RGD:7240710
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nacc1 nucleus accumbens associated 1 JBrowse link 19 25,783,686 25,801,526 RGD:7240710
RGD:8554872
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gemin4 gem (nuclear organelle) associated protein 4 JBrowse link 10 64,364,808 64,375,885 RGD:8554872
RGD:7240710
O'Donnell Pappas Syndrome 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:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
Oculoskeletodental Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3c2a phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha JBrowse link 1 185,210,922 185,326,314 RGD:7240710
RGD:8554872
optic atrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:7240710
RGD:8554872
PHARC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abhd12 abhydrolase domain containing 12 JBrowse link 3 146,630,298 146,690,375 RGD:7240710
RGD:8554872
posterior polar cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:8554872
Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:8554872
RGD:11535073
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, Juvenile Cataracts, and Short Stature Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gphn gephyrin JBrowse link 6 101,327,874 101,859,169 RGD:8554872
G Rdh11 retinol dehydrogenase 11 JBrowse link 6 102,356,498 102,372,618 RGD:7240710
RGD:8554872
Sengers syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agk acylglycerol kinase JBrowse link 4 68,483,345 68,561,518 RGD:7240710
RGD:8554872
RGD:11554173
G Dennd11 DENN domain containing 11 JBrowse link 4 68,569,308 68,597,626 RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
senile cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9068934
RGD:10003112
G Cdkn1b cyclin-dependent kinase inhibitor 1B JBrowse link 4 168,689,043 168,694,159 RGD:10045354
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:10401084
RGD:10401083
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:10003112
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:10003112
G Gsr glutathione-disulfide reductase JBrowse link 16 62,197,617 62,239,987 RGD:10401829
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:14700972
G Gstp1 glutathione S-transferase pi 1 JBrowse link 1 219,291,679 219,294,147 RGD:8547933
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:14700972
G Hspa1b heat shock protein family A (Hsp70) member 1B JBrowse link 20 4,877,638 4,880,112 RGD:8662462
G Mt2A metallothionein 2A JBrowse link 19 11,307,966 11,308,740 RGD:10412648
G Nat2 N-acetyltransferase 2 JBrowse link 16 23,960,709 23,991,570 RGD:8552653
G Ogg1 8-oxoguanine DNA glycosylase JBrowse link 4 145,282,828 145,289,367 RGD:10401084
G Sirt1 sirtuin 1 JBrowse link 20 26,831,971 26,851,587 RGD:10045354
G Wrn WRN RecQ like helicase JBrowse link 16 62,483,773 62,619,018 RGD:10042984
RGD:10042985
G Xrcc1 X-ray repair cross complementing 1 JBrowse link 1 81,412,635 81,441,680 RGD:10401083
Spondyloocular Syndrome, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xylt2 xylosyltransferase 2 JBrowse link 10 82,386,003 82,399,485 RGD:8554872
Vici syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epg5 ectopic P-granules autophagy protein 5 homolog JBrowse link 18 74,299,965 74,397,115 RGD:7240710
RGD:8554872
RGD:11554173
Warburg micro syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab18 RAB18, member RAS oncogene family JBrowse link 17 59,844,781 59,876,170 RGD:8554872
RGD:11554173
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 13 44,578,208 44,649,876 RGD:8554872
RGD:11554173
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 RGD:8554872
RGD:11554173
G Tbc1d20 TBC1 domain family, member 20 JBrowse link 3 147,772,006 147,790,946 RGD:11554173
G Zranb3 zinc finger RANBP2-type containing 3 JBrowse link 13 44,661,375 44,812,430 RGD:8554872
Warburg micro syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 13 44,578,208 44,649,876 RGD:8554872
RGD:7240710
G Zranb3 zinc finger RANBP2-type containing 3 JBrowse link 13 44,661,375 44,812,430 RGD:8554872
Warburg micro syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 RGD:7240710
RGD:8554872
Warburg micro syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab18 RAB18, member RAS oncogene family JBrowse link 17 59,844,781 59,876,170 RGD:7240710
RGD:8554872
Warburg micro syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d20 TBC1 domain family, member 20 JBrowse link 3 147,772,006 147,790,946 RGD:7240710
RGD:8554872
Zonular Cataract and Nystagmus 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

Term paths to the root
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Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          monogenic disease 4656
            cataract 188
              3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 1
              Adams Nance Syndrome 0
              Alpha-B Crystallinopathy with Cataract 0
              Aniridia 1 7
              Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 0
              Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 0
              Ataxia-Microcephaly-Cataract Syndrome 0
              Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 0
              Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 0
              Ayme-Gripp Syndrome 1
              Bassoe Syndrome 0
              Bhaskar Jagannathan Syndrome 0
              CAHMR Syndrome 0
              CAMFAK Syndrome 0
              CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
              Capsule Opacification 0
              Cataract 48 1
              Cataract Ataxia Deafness 0
              Cataract Congenital Dominant Non Nuclear 0
              Cataract Hutterite Type 1
              Cataract Microcornea Syndrome 2
              Cataract and Congenital Ichthyosis 0
              Cataract, Age-Related Nuclear 0
              Cataract, Autosomal Dominant Nuclear 2
              Cataract, Autosomal Recessive Congenital 1 0
              Cataract, Cortical Pulverulent, Late-Onset 0
              Cataract, Crystalline Coralliform 0
              Cataract, Floriform 0
              Cataract, Lamellar 2 1
              Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 0
              Cataract, Polymorphic and Lamellar 0
              Cataract, Posterior Polar, 5 0
              Cataract, Progressive Polymorphic Cortical 0
              Cataract, Pulverulent 0
              Cataract, Sutural, with Punctate and Cerulean Opacities 1
              Cataract, Variable Zonular Pulverulent 0
              Cataract, Zonular Central Nuclear 0
              Cataracts, Ataxia, Short Stature, and Mental Retardation 0
              Cerebrooculofacioskeletal Syndrome 2 1
              Cerebrooculofacioskeletal Syndrome 4 1
              Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 0
              Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 0
              Congenital Cataracts, Facial Dysmorphism, and Neuropathy 1
              Congenital Cataracts, Hearing Loss, and Neurodegeneration 1
              Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 0
              Cornea Guttata with Anterior Polar Cataract 0
              Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
              Crome Syndrome 0
              Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 1
              Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 0
              Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
              Edict Syndrome 1
              Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 0
              Fine-Lubinsky Syndrome 0
              Flynn Aird Syndrome 0
              Goldstein Hutt Syndrome 0
              Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
              Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 1
              Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 0
              Hypertrophic Neuropathy and Cataract 0
              ITM2B-related cerebral amyloid angiopathy 2 1
              Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 1
              Isolated Microphthalmia with Cataract 1 0
              Isolated Microphthalmia with Cataract 2 1
              Isolated Microphthalmia with Cataract 3 1
              Isolated Microphthalmia with Cataract 4 0
              Juvenile Cataract, with Microcornea and Glucosuria 1
              Kahrizi syndrome 1
              Karandikar Maria Kamble Syndrome 0
              Kozlowski Rafinski Klicharska Syndrome 0
              Krasnow Qazi Syndrome 0
              Leg, Absence Deformity of, with Congenital Cataract 0
              Lipodystrophy with Congenital Cataracts and Neurodegeneration 1
              Lubinsky Syndrome 0
              MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS 1
              Marinesco-Sjogren syndrome 1
              Marshall Syndrome + 1
              Martsolf syndrome 2
              Microcephalic Primordial Dwarfism Toriello Type 0
              Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
              Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
              Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 0
              Microphthalmia, Cataracts, and Iris Abnormalities 2
              Microphthalmia, Syndromic 2 1
              Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 2
              Mousa Al din Al Nassar Syndrome 0
              Myopathy, Cataract, Hypogonadism Syndrome 0
              Myopia, High, with Cataract and Vitreoretinal Degeneration 1
              NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES 1
              NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION 1
              NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES 1
              Nance-Horan syndrome 1
              Nathalie Syndrome 0
              O'Donnell Pappas Syndrome 2
              Oculoskeletodental Syndrome 1
              Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 0
              PHARC syndrome 1
              Pavone Fiumara Rizzo Syndrome 0
              Peters Anomaly with Cataract 0
              Polycystic Kidney, Cataract, and Congenital Blindness 0
              Premature Aging, Okamoto Type 0
              RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT 2
              Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 2
              Schaap Taylor Baraitser Syndrome 0
              Seemanova Lesny Syndrome 0
              Sengers syndrome 3
              Seow Najjar Syndrome 0
              Singh Chhaparwal Dhanda Syndrome 0
              Slavotinek Pike Mills Hurst Syndrome 0
              Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 0
              Spondyloocular Syndrome, Autosomal Recessive 1
              Vici syndrome 1
              Warburg micro syndrome + 5
              Wellesley Carmen French Syndrome 0
              Zonular Cataract and Nystagmus 1
              cataract 1 multiple types 4
              cataract 10 multiple types 1
              cataract 11 multiple types + 1
              cataract 12 multiple types 1
              cataract 13 with adult i phenotype 1
              cataract 14 multiple types 1
              cataract 15 multiple types 1
              cataract 16 multiple types 1
              cataract 17 multiple types 2
              cataract 18 1
              cataract 19 multiple types 1
              cataract 2 multiple types 2
              cataract 20 multiple types 1
              cataract 21 multiple types 3
              cataract 22 multiple types 1
              cataract 23 1
              cataract 24 0
              cataract 25 0
              cataract 26 multiple types 0
              cataract 27 1
              cataract 28 0
              cataract 29 0
              cataract 3 multiple types 1
              cataract 30 2
              cataract 31 multiple types 1
              cataract 32 multiple types 0
              cataract 33 2
              cataract 34 multiple types 1
              cataract 35 0
              cataract 36 1
              cataract 37 0
              cataract 38 1
              cataract 39 multiple types 1
              cataract 4 multiple types + 1
              cataract 40 1
              cataract 41 1
              cataract 42 1
              cataract 43 1
              cataract 44 1
              cataract 45 1
              cataract 46 juvenile-onset 1
              cataract 5 multiple types 1
              cataract 6 multiple types 1
              cataract 7 2
              cataract 8 multiple types 0
              cataract 9 multiple types 2
              congenital muscular dystrophy with cataracts and intellectual disability 1
              diabetic cataract 1
              hereditary spastic paraplegia 9A 1
              hyperferritinemia-cataract syndrome 2
              hypomyelinating leukodystrophy 5 1
              myofibrillar myopathy 2 1
              myotonic cataract 0
              optic atrophy 3 1
              palmoplantar keratoderma and congenital alopecia 2 0
              posterior polar cataract 1
              senile cataract + 17
              tetanic cataract 0
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        sensory system disease 4684
          eye and adnexa disease 2252
            eye disease 2252
              lens disease 195
                cataract 188
                  3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 1
                  Adams Nance Syndrome 0
                  Alpha-B Crystallinopathy with Cataract 0
                  Aniridia 1 7
                  Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 0
                  Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 0
                  Ataxia-Microcephaly-Cataract Syndrome 0
                  Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 0
                  Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 0
                  Ayme-Gripp Syndrome 1
                  Bassoe Syndrome 0
                  Bhaskar Jagannathan Syndrome 0
                  CAHMR Syndrome 0
                  CAMFAK Syndrome 0
                  CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
                  Capsule Opacification 0
                  Cataract 48 1
                  Cataract Ataxia Deafness 0
                  Cataract Congenital Dominant Non Nuclear 0
                  Cataract Hutterite Type 1
                  Cataract Microcornea Syndrome 2
                  Cataract and Congenital Ichthyosis 0
                  Cataract, Age-Related Nuclear 0
                  Cataract, Autosomal Dominant Nuclear 2
                  Cataract, Autosomal Recessive Congenital 1 0
                  Cataract, Cortical Pulverulent, Late-Onset 0
                  Cataract, Crystalline Coralliform 0
                  Cataract, Floriform 0
                  Cataract, Lamellar 2 1
                  Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 0
                  Cataract, Polymorphic and Lamellar 0
                  Cataract, Posterior Polar, 5 0
                  Cataract, Progressive Polymorphic Cortical 0
                  Cataract, Pulverulent 0
                  Cataract, Sutural, with Punctate and Cerulean Opacities 1
                  Cataract, Variable Zonular Pulverulent 0
                  Cataract, Zonular Central Nuclear 0
                  Cataracts, Ataxia, Short Stature, and Mental Retardation 0
                  Cerebrooculofacioskeletal Syndrome 2 1
                  Cerebrooculofacioskeletal Syndrome 4 1
                  Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 0
                  Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 0
                  Congenital Cataracts, Facial Dysmorphism, and Neuropathy 1
                  Congenital Cataracts, Hearing Loss, and Neurodegeneration 1
                  Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 0
                  Cornea Guttata with Anterior Polar Cataract 0
                  Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
                  Crome Syndrome 0
                  Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 1
                  Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 0
                  Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
                  Edict Syndrome 1
                  Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 0
                  Fine-Lubinsky Syndrome 0
                  Flynn Aird Syndrome 0
                  Goldstein Hutt Syndrome 0
                  Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
                  Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 1
                  Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 0
                  Hypertrophic Neuropathy and Cataract 0
                  ITM2B-related cerebral amyloid angiopathy 2 1
                  Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 1
                  Isolated Microphthalmia with Cataract 1 0
                  Isolated Microphthalmia with Cataract 2 1
                  Isolated Microphthalmia with Cataract 3 1
                  Isolated Microphthalmia with Cataract 4 0
                  Juvenile Cataract, with Microcornea and Glucosuria 1
                  Kahrizi syndrome 1
                  Karandikar Maria Kamble Syndrome 0
                  Kozlowski Rafinski Klicharska Syndrome 0
                  Krasnow Qazi Syndrome 0
                  Leg, Absence Deformity of, with Congenital Cataract 0
                  Lipodystrophy with Congenital Cataracts and Neurodegeneration 1
                  Lubinsky Syndrome 0
                  MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS 1
                  Marinesco-Sjogren syndrome 1
                  Marshall Syndrome + 1
                  Martsolf syndrome 2
                  Microcephalic Primordial Dwarfism Toriello Type 0
                  Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
                  Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
                  Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 0
                  Microphthalmia, Cataracts, and Iris Abnormalities 2
                  Microphthalmia, Syndromic 2 1
                  Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 2
                  Mousa Al din Al Nassar Syndrome 0
                  Myopathy, Cataract, Hypogonadism Syndrome 0
                  Myopia, High, with Cataract and Vitreoretinal Degeneration 1
                  NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES 1
                  NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION 1
                  NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES 1
                  Nance-Horan syndrome 1
                  Nathalie Syndrome 0
                  O'Donnell Pappas Syndrome 2
                  Oculoskeletodental Syndrome 1
                  Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 0
                  PHARC syndrome 1
                  Pavone Fiumara Rizzo Syndrome 0
                  Peters Anomaly with Cataract 0
                  Polycystic Kidney, Cataract, and Congenital Blindness 0
                  Premature Aging, Okamoto Type 0
                  RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT 2
                  Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 2
                  Schaap Taylor Baraitser Syndrome 0
                  Seemanova Lesny Syndrome 0
                  Sengers syndrome 3
                  Seow Najjar Syndrome 0
                  Singh Chhaparwal Dhanda Syndrome 0
                  Slavotinek Pike Mills Hurst Syndrome 0
                  Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 0
                  Spondyloocular Syndrome, Autosomal Recessive 1
                  Vici syndrome 1
                  Warburg micro syndrome + 5
                  Wellesley Carmen French Syndrome 0
                  Zonular Cataract and Nystagmus 1
                  cataract 1 multiple types 4
                  cataract 10 multiple types 1
                  cataract 11 multiple types + 1
                  cataract 12 multiple types 1
                  cataract 13 with adult i phenotype 1
                  cataract 14 multiple types 1
                  cataract 15 multiple types 1
                  cataract 16 multiple types 1
                  cataract 17 multiple types 2
                  cataract 18 1
                  cataract 19 multiple types 1
                  cataract 2 multiple types 2
                  cataract 20 multiple types 1
                  cataract 21 multiple types 3
                  cataract 22 multiple types 1
                  cataract 23 1
                  cataract 24 0
                  cataract 25 0
                  cataract 26 multiple types 0
                  cataract 27 1
                  cataract 28 0
                  cataract 29 0
                  cataract 3 multiple types 1
                  cataract 30 2
                  cataract 31 multiple types 1
                  cataract 32 multiple types 0
                  cataract 33 2
                  cataract 34 multiple types 1
                  cataract 35 0
                  cataract 36 1
                  cataract 37 0
                  cataract 38 1
                  cataract 39 multiple types 1
                  cataract 4 multiple types + 1
                  cataract 40 1
                  cataract 41 1
                  cataract 42 1
                  cataract 43 1
                  cataract 44 1
                  cataract 45 1
                  cataract 46 juvenile-onset 1
                  cataract 5 multiple types 1
                  cataract 6 multiple types 1
                  cataract 7 2
                  cataract 8 multiple types 0
                  cataract 9 multiple types 2
                  congenital muscular dystrophy with cataracts and intellectual disability 1
                  diabetic cataract 1
                  hereditary spastic paraplegia 9A 1
                  hyperferritinemia-cataract syndrome 2
                  hypomyelinating leukodystrophy 5 1
                  myofibrillar myopathy 2 1
                  myotonic cataract 0
                  optic atrophy 3 1
                  palmoplantar keratoderma and congenital alopecia 2 0
                  posterior polar cataract 1
                  senile cataract + 17
                  tetanic cataract 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.