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ONTOLOGY REPORT - ANNOTATIONS


Term:blindness
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Accession:DOID:1432 term browser browse the term
Definition:The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.
Synonyms:exact_synonym: Amaurosis;   Complete Blindness;   Hysterical Blindness;   Legal Blindness;   acquired blindness;   amauroses;   monocular blindness;   transient blindness;   vision impairment;   vision loss
 primary_id: MESH:D001766
 alt_id: RDO:0001207
 xref: ICD10CM:H54;   ICD9CM:369
For additional species annotation, visit the Alliance of Genome Resources.


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blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:8554872
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 JBrowse link 10 58,599,690 58,631,194 RGD:1599003
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:8696024
G Arv1 ARV1 homolog, fatty acid homeostasis modulator JBrowse link 19 57,484,720 57,496,539 RGD:8554872
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase JBrowse link 9 78,862,013 78,882,061 RGD:11554173
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Efemp1 EGF containing fibulin extracellular matrix protein 1 JBrowse link 14 113,202,382 113,294,993 RGD:8554872
G Lca5 lebercilin LCA5 JBrowse link 8 90,926,309 90,984,271 RGD:11554173
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 2,740 3,694 RGD:8554872
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 JBrowse link MT 13,543 14,061 RGD:8554872
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:8554872
G Rpe65 retinoid isomerohydrolase RPE65 JBrowse link 2 266,141,581 266,169,197 RGD:11554173
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:11075234
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:734779
achromatopsia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:8554872
G Cabp4 calcium binding protein 4 JBrowse link 1 219,383,452 219,388,009 RGD:8554872
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:8554872
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:8554872
G Pde6c phosphodiesterase 6C JBrowse link 1 256,822,099 256,885,879 RGD:8554872
RGD:13592920
Achromatopsia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:9068452
RGD:8554872
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:9068446
RGD:8554872
RGD:9068450
achromatopsia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:7240710
RGD:8554872
achromatopsia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:7240710
RGD:8554872
achromatopsia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnat2 G protein subunit alpha transducin 2 JBrowse link 2 210,880,754 210,890,765 RGD:7240710
RGD:8554872
Achromatopsia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde6c phosphodiesterase 6C JBrowse link 1 256,822,099 256,885,879 RGD:8554872
achromatopsia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:7240710
RGD:8554872
Amaurosis Fugax 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:1582361
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A JBrowse link 1 101,511,899 101,515,043 RGD:9999160
Arts syndrome 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:12910562
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872
autosomal dominant Wolfram syndrome 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
blue color blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opn1sw opsin 1, short wave sensitive JBrowse link 4 56,653,840 56,656,980 RGD:7240710
RGD:8554872
blue cone monochromacy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opn1mw opsin 1, medium wave sensitive JBrowse link X 156,569,683 156,589,907 RGD:7240710
RGD:8554872
color blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:11554173
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:8655850
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:734792
RGD:11554173
RGD:8554872
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:1600870
RGD:11554173
G Gnat2 G protein subunit alpha transducin 2 JBrowse link 2 210,880,754 210,890,765 RGD:1599034
RGD:11554173
G Pde6h phosphodiesterase 6H JBrowse link 4 170,947,723 170,963,046 RGD:11554173
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Timm8a1 translocase of inner mitochondrial membrane 8A1 JBrowse link X 105,351,714 105,355,722 RGD:13209130
RGD:11554173
RGD:8554872
RGD:7240710
RGD:13209136
RGD:13209134
Norrie disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fzd4 frizzled class receptor 4 JBrowse link 1 153,589,471 153,598,376 RGD:13592920
RGD:8554872
G Ndp norrin cystine knot growth factor NDP JBrowse link X 6,791,090 6,815,586 RGD:7240710
RGD:8554872
G Prss23 serine protease 23 JBrowse link 1 153,732,528 153,742,111 RGD:8554872
G Tspan12 tetraspanin 12 JBrowse link 4 48,852,823 48,953,240 RGD:8554872
red-green color blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opn1mw opsin 1, medium wave sensitive JBrowse link X 156,569,683 156,589,907 RGD:7240710
RGD:8554872
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Hars1 histidyl-tRNA synthetase 1 JBrowse link 18 29,611,545 29,629,087 RGD:8554872
G Hars2 histidyl-tRNA synthetase 2, mitochondrial JBrowse link 18 29,629,203 29,638,460 RGD:8554872
G LOC100361018 rCG22048-like JBrowse link 20 29,947,427 29,954,869 RGD:8554872
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8554872
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:8554872
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:8554872
G Ush1g USH1 protein network component sans JBrowse link 10 103,866,566 103,873,416 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
G Vsir V-set immunoregulatory receptor JBrowse link 20 29,897,543 29,923,381 RGD:8554872
G Whrn whirlin JBrowse link 5 79,235,541 79,317,206 RGD:8554872
Seizures, Cortical Blindness, and Microcephaly Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Diaph1 diaphanous-related formin 1 JBrowse link 18 30,972,907 31,071,371 RGD:7240710
RGD:8554872
Usher syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:8554872
G Arsg arylsulfatase G JBrowse link 10 97,722,550 97,859,975 RGD:8554872
G Bbs1 Bardet-Biedl syndrome 1 JBrowse link 1 220,146,084 220,165,545 RGD:8554872
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 JBrowse link 13 103,268,045 103,292,848 RGD:8554872
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8547536
RGD:8554872
G Cep250 centrosomal protein 250 JBrowse link 3 151,508,366 151,544,631 RGD:8554872
G Clrn1 clarin 1 JBrowse link 2 149,049,925 149,088,787 RGD:8547535
G Dusp10 dual specificity phosphatase 10 JBrowse link 13 104,284,660 104,321,455 RGD:8554872
G Eprs glutamyl-prolyl-tRNA synthetase JBrowse link 13 103,300,911 103,371,651 RGD:8554872
G Esrrg estrogen-related receptor gamma JBrowse link 13 106,063,799 106,683,353 RGD:8554872
G Gpatch2 G patch domain containing 2 JBrowse link 13 105,684,300 105,824,405 RGD:8554872
G Guca1a guanylate cyclase activator 1A JBrowse link 9 15,609,804 15,620,030 RGD:8554872
G Hars1 histidyl-tRNA synthetase 1 JBrowse link 18 29,611,545 29,629,087 RGD:8554872
G Hhipl2 HHIP like 2 JBrowse link 13 101,814,574 101,835,144 RGD:8554872
G Hlx H2.0-like homeobox JBrowse link 13 102,637,967 102,643,376 RGD:8554872
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:8554872
G LOC100361018 rCG22048-like JBrowse link 20 29,947,427 29,954,869 RGD:8554872
G Lyplal1 lysophospholipase-like 1 JBrowse link 13 104,049,263 104,080,680 RGD:8554872
G Mark1 microtubule affinity regulating kinase 1 JBrowse link 13 102,808,254 102,942,863 RGD:8554872
G Mir194-1 microRNA 194-1 JBrowse link 13 103,250,576 103,250,658 RGD:8554872
G Mtarc1 mitochondrial amidoxime reducing component 1 JBrowse link 13 102,693,679 102,724,120 RGD:8554872
G Mtarc2 mitochondrial amidoxime reducing component 2 JBrowse link 13 102,724,266 102,755,511 RGD:8554872
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:8547536
RGD:8554872
RGD:11554173
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8547536
RGD:8554872
RGD:11554173
G Prom1 prominin 1 JBrowse link 14 71,532,321 71,637,400 RGD:8554872
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:8554872
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 RGD:8554872
G RGD1310587 similar to hypothetical protein FLJ14146 JBrowse link 13 102,780,885 102,790,621 RGD:8554872
G Rrp15 ribosomal RNA processing 15 homolog JBrowse link 13 105,155,824 105,178,907 RGD:8554872
G Slc30a10 solute carrier family 30, member 10 JBrowse link 13 103,396,295 103,406,759 RGD:8554872
G Spata17 spermatogenesis associated 17 JBrowse link 13 105,489,121 105,684,293 RGD:8554872
G Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A JBrowse link 13 101,770,278 101,807,975 RGD:8554872
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:8554872
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:8547536
RGD:8554872
RGD:8695937
RGD:8695939
RGD:8694458
RGD:8694457
G Ush1g USH1 protein network component sans JBrowse link 10 103,866,566 103,873,416 RGD:8547536
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8547535
RGD:8554872
RGD:8547956
G Zdhhc24 zinc finger, DHHC-type containing 24 JBrowse link 1 220,137,280 220,143,387 RGD:8554872
Usher syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:8554872
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Cib2 calcium and integrin binding family member 2 JBrowse link 8 59,123,078 59,139,946 RGD:8554872
G Espn espin JBrowse link 5 169,293,356 169,331,338 RGD:8554872
G LOC100361018 rCG22048-like JBrowse link 20 29,947,427 29,954,869 RGD:8554872
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:8694152
RGD:8554872
RGD:13592920
G Otop2 otopetrin 2 JBrowse link 10 103,874,383 103,883,953 RGD:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8554872
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:8695918
RGD:8554872
RGD:13592920
RGD:8695921
RGD:8695919
G Ush1g USH1 protein network component sans JBrowse link 10 103,866,566 103,873,416 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
Usher Syndrome Type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:7240710
RGD:8554872
RGD:8694135
RGD:8694137
RGD:8694151
RGD:1581470
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8554872
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:11554173
RGD:8554872
Usher syndrome type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:7240710
RGD:8554872
RGD:11554173
RGD:1600453
Usher syndrome type 1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:7240710
RGD:8554872
RGD:8662279
G LOC100361018 rCG22048-like JBrowse link 20 29,947,427 29,954,869 RGD:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:7240710
RGD:8554872
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:8554872
Usher syndrome type 1F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:7240710
RGD:8554872
Usher syndrome type 1G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otop2 otopetrin 2 JBrowse link 10 103,874,383 103,883,953 RGD:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8554872
G Ush1g USH1 protein network component sans JBrowse link 10 103,866,566 103,873,416 RGD:7240710
RGD:8554872
Usher syndrome type 1J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cib2 calcium and integrin binding family member 2 JBrowse link 8 59,123,078 59,139,946 RGD:7240710
RGD:11554173
RGD:8554872
Usher Syndrome Type 1M term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Espn espin JBrowse link 5 169,293,356 169,331,338 RGD:7240710
RGD:8554872
Usher syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8547952
RGD:8554872
RGD:8694137
RGD:8547985
RGD:8547965
RGD:8547962
Usher syndrome type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Kctd3 potassium channel tetramerization domain containing 3 JBrowse link 13 107,433,588 107,471,843 RGD:8554872
G Pdzd7 PDZ domain containing 7 JBrowse link 1 264,776,393 264,796,206 RGD:7240710
RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8547987
RGD:8547961
Usher syndrome type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:7240710
RGD:8554872
G Pdzd7 PDZ domain containing 7 JBrowse link 1 264,776,393 264,796,206 RGD:7240710
RGD:8554872
G Slc4a7 solute carrier family 4 member 7 JBrowse link 15 11,832,611 11,912,923 RGD:13592920
Usher syndrome type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Whrn whirlin JBrowse link 5 79,235,541 79,317,206 RGD:7240710
RGD:8554872
Usher syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clrn1 clarin 1 JBrowse link 2 149,049,925 149,088,787 RGD:8554872
Usher syndrome type 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clrn1 clarin 1 JBrowse link 2 149,049,925 149,088,787 RGD:634439
RGD:8554872
RGD:7240710
Usher syndrome type 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hars1 histidyl-tRNA synthetase 1 JBrowse link 18 29,611,545 29,629,087 RGD:7240710
RGD:8554872
Usher Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arsg arylsulfatase G JBrowse link 10 97,722,550 97,859,975 RGD:8554872
RGD:7240710
Usher Syndrome, Type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:8554872
Usher Syndrome, Type ID/F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8554872
visual impairment and progressive phthisis bulbi term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mark3 microtubule affinity regulating kinase 3 JBrowse link 6 136,040,957 136,129,780 RGD:8554872
RGD:7240710
Webb-Dattani Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 JBrowse link 1 146,399,217 146,556,437 RGD:8554872
RGD:7240710
Wittwer Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsd2 nuclear receptor binding SET domain protein 2 JBrowse link 14 82,119,210 82,196,501 RGD:8554872
Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 2,740 3,694 RGD:5490247
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:1599813
RGD:8554872
RGD:11554173
Wolfram syndrome 1 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
Wolfram syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cisd2 CDGSH iron sulfur domain 2 JBrowse link 2 240,586,754 240,611,560 RGD:7240710
RGD:8554872
RGD:11554173
RGD:10045603
RGD:10045601
G Slc9b1 solute carrier family 9 member B1 JBrowse link 2 240,527,120 240,581,616 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    sensory system disease 4976
      eye disease 2390
        blindness 86
          Amaurosis Fugax 2
          Deaf-Blind Disorders + 54
          Hemianopsia 0
          Microcephaly Microphthalmos Blindness 0
          Norrie disease 4
          Polycystic Kidney, Cataract, and Congenital Blindness 0
          Retinal Aplasia 0
          Rodrigues Blindness 0
          Scoliosis, Arachnodactyly, and Blindness 0
          Webb-Dattani Syndrome 1
          Yemenite Deaf-Blind Hypopigmentation Syndrome 0
          color blindness + 10
          cortical blindness + 1
          visual impairment and progressive phthisis bulbi 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        Neurologic Manifestations 3903
          Sensation Disorders 953
            Vision Disorders 150
              blindness 86
                Amaurosis Fugax 2
                Deaf-Blind Disorders + 54
                Hemianopsia 0
                Microcephaly Microphthalmos Blindness 0
                Norrie disease 4
                Polycystic Kidney, Cataract, and Congenital Blindness 0
                Retinal Aplasia 0
                Rodrigues Blindness 0
                Scoliosis, Arachnodactyly, and Blindness 0
                Webb-Dattani Syndrome 1
                Yemenite Deaf-Blind Hypopigmentation Syndrome 0
                color blindness + 10
                cortical blindness + 1
                visual impairment and progressive phthisis bulbi 1
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.