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

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:blindness
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Legal blindness
ClinVar Annotator: match by term: Vision loss
ClinVar PMID:9054934, PMID:9466990, PMID:9781034, PMID:9973280, PMID:10090887, PMID:10206579, PMID:10711710, PMID:10958763, PMID:11017087, PMID:11328725, PMID:11527935, PMID:11702214, PMID:12192456, PMID:12796258, PMID:15579991, PMID:16103129, PMID:16303926, PMID:19074458, PMID:19217903, PMID:21911583, PMID:22264887, PMID:22312191, PMID:22995991, PMID:23755871, PMID:23769331, PMID:23918662, PMID:24033266, PMID:24509150, PMID:24713488, PMID:25087612, PMID:25712131, PMID:25741868, PMID:26103963, PMID:26229699, PMID:26593885, PMID:27014590, PMID:27367509, PMID:27820952, PMID:27939946, PMID:28041643, PMID:28118664, PMID:28492532, PMID:29114839, PMID:29186038, PMID:29847635, PMID:30311386, PMID:30718709 NCBI chr 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253
JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 susceptibility ISO RGD PMID:10873396 RGD:1599003 NCBI chr 5:30,824,571...30,835,025
Ensembl chr 5:30,824,683...30,834,128
JBrowse link
G AQP4 aquaporin 4 ISO associated with Multiple Sclerosis, Relapsing-Remitting; RGD PMID:17702782 RGD:8696024 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
JBrowse link
G ARV1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25558065, PMID:27270415 NCBI chr 4:8,409,039...8,424,776
Ensembl chr 4:8,409,484...8,424,644
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15114530 NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697
JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:17345604, PMID:17564967, PMID:20683928, PMID:21866095, PMID:23188109, PMID:25741868, PMID:25920555, PMID:26092869, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29398085, PMID:30311386 NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429
JBrowse link
G CERKL ceramide kinase like ISO ClinVar Annotator: match by term: Vision loss ClinVar PMID:14681825, PMID:21151602, PMID:22164218, PMID:24043777, PMID:24625443, PMID:25097241, PMID:25741868, PMID:25999674, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709, PMID:221642182 NCBI chr36:24,708,109...24,839,240
Ensembl chr36:24,710,035...24,859,028
JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782
JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 NCBI chr10:56,632,801...56,694,872
Ensembl chr10:56,579,899...56,787,187
JBrowse link
G LCA5 lebercilin LCA5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17546029 NCBI chr12:40,443,759...40,527,300
Ensembl chr12:40,444,617...40,527,292
JBrowse link
G LRRK2 leucine rich repeat kinase 2 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chr27:13,282,824...13,420,917
Ensembl chr27:13,283,756...13,420,870
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: VISION LOSS ClinVar NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 NCBI chr MT:13,582...14,109
Ensembl chr MT:13,582...14,109
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: VISION LOSS ClinVar PMID:21520333, PMID:28492532, PMID:30311386 NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16150724, PMID:16226919 NCBI chr 6:76,887,399...76,911,133
Ensembl chr 6:76,887,399...76,911,131
JBrowse link
G TSPAN12 tetraspanin 12 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chr14:58,941,658...59,005,507
Ensembl chr14:58,941,551...59,005,463
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Legal blindness ClinVar PMID:15015129, PMID:15043528, PMID:15241801, PMID:15325563, PMID:16963483, PMID:18273898, PMID:20513143, PMID:21569298, PMID:24033266, PMID:24498627, PMID:24944099, PMID:25575603, PMID:25741868, PMID:26927203, PMID:27460420, PMID:28492532, PMID:30311386 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:23093773 RGD:11075234 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G VSX2 visual system homeobox 2 susceptibility ISO microphthalmia, OMIM:251600;DNA:missense mutations: :p.R200Q , p.R200P RGD PMID:10932181 RGD:734779 NCBI chr 8:47,455,337...47,473,786
Ensembl chr 8:47,455,340...47,473,684
JBrowse link
achromatopsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:24033266, PMID:28041643 NCBI chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814
JBrowse link
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807, PMID:23714322, PMID:28492532, PMID:29525873, PMID:30718709 NCBI chr18:50,014,698...50,017,854
Ensembl chr18:50,014,698...50,017,854
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9662398, PMID:11536077, PMID:14757870, PMID:15712225, PMID:16961972, PMID:17265047, PMID:17693388, PMID:18445228, PMID:18521937, PMID:20079539, PMID:20238023, PMID:20506298, PMID:20549516, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24148654, PMID:24504161, PMID:24903488, PMID:25168900, PMID:25616768, PMID:25637600, PMID:25741868, PMID:25943428, PMID:26992781, PMID:27820752, PMID:28159970, PMID:28341476, PMID:28492532, PMID:28559085, PMID:29053603, PMID:30311386, PMID:30682209 NCBI chr10:44,232,716...44,278,555
Ensembl chr10:44,234,004...44,260,746
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:1347967, PMID:1572225, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16319819, PMID:16379026, PMID:17265047, PMID:17652762, PMID:20079539, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25205868, PMID:25558176, PMID:25616768, PMID:25741868, PMID:25770143, PMID:26106334, PMID:27479814, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386, PMID:30718709 NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr 6:42,259,404...42,271,197
Ensembl chr 6:42,259,702...42,268,082
JBrowse link
G PDE6C phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:10393054, PMID:18614542, PMID:19615668, PMID:19887631, PMID:23776498, PMID:25741868, PMID:26103963, PMID:28041643, PMID:28492532, PMID:28704108, PMID:30080950 NCBI chr28:7,839,604...7,887,827
Ensembl chr28:7,839,847...7,887,776
JBrowse link
Achromatopsia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO DNA:missense mutations:exon:c.682G>A (p.E228K), c.1315C>T (p.R439W), c.1405G>A (p.A469T) (human)
ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Rod monochromatism
RGD
ClinVar
PMID:9662398, PMID:11536077, PMID:14757870, PMID:15712225, PMID:16961972, PMID:17693388, PMID:18521937, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24903488, PMID:25616768, PMID:25741868, PMID:25943428, PMID:26992781, PMID:28492532, PMID:30311386, PMID:30682209 RGD:9068452 NCBI chr10:44,232,716...44,278,555
Ensembl chr10:44,234,004...44,260,746
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 treatment ISO ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Rod monochromatism
DNA:deletion: :c.1148delC (human)
RGD
ClinVar
PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:17652762, PMID:20079539, PMID:21576125, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25558176, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386, PMID:30718709 RGD:9068446, RGD:9068450 NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link
achromatopsia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Total colorblindness ClinVar PMID:9466990, PMID:9666097, PMID:9973280, PMID:10413692, PMID:10958763, PMID:11702214, PMID:12192456, PMID:12796258, PMID:16303926, PMID:18285826, PMID:18854780, PMID:19074458, PMID:24033266, PMID:24265693, PMID:26872967, PMID:28041643, PMID:28118664, PMID:28492532, PMID:29162642, PMID:29555955, PMID:29854428, PMID:30311386, PMID:30718709, PMID:31576780 NCBI chr 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IEA
ISO
Achromatopsia-2 OMIA
OMIM
PMID:26407004 NCBI chr10:44,232,716...44,278,555
Ensembl chr10:44,234,004...44,260,746
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Total colorblindness ClinVar PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:30311386, PMID:30718709 NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link
achromatopsia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNGB3 cyclic nucleotide gated channel subunit beta 3 ISO
IEA
Achromatopsia (cone degeneration, hemeralopia), GSPT
Achromatopsia (cone degeneration, hemeralopia), AMAL
OMIM
OMIA
PMID:5298491, PMID:12140185, PMID:16879359, PMID:20061167, PMID:20378608, PMID:22065099, PMID:23568263, PMID:23601474, PMID:25752464, PMID:29020838 NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link
achromatopsia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAT2 G protein subunit alpha transducin 2 ISO OMIM NCBI chr 6:42,259,404...42,271,197
Ensembl chr 6:42,259,702...42,268,082
JBrowse link
Achromatopsia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE6C phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia 5 ClinVar PMID:19887631, PMID:25741868, PMID:30080950 NCBI chr28:7,839,604...7,887,827
Ensembl chr28:7,839,847...7,887,776
JBrowse link
achromatopsia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 ISO OMIM NCBI chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814
JBrowse link
Amaurosis Fugax term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:15073384 RGD:1582361 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
JBrowse link
G PPP1R15A protein phosphatase 1 regulatory subunit 15A ISO mRNA:increased expression:neuroretina (mouse) RGD PMID:17975099 RGD:9999160 NCBI chr 1:107,486,399...107,490,151
Ensembl chr 1:107,486,438...107,489,222
JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX2 paired like homeodomain 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO OMIM NCBI chr  X:81,150,537...81,171,521
Ensembl chr  X:81,150,536...81,212,689
JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO OMIM NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
JBrowse link
blue color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1SW opsin 1, short wave sensitive ISO OMIM NCBI chr14:7,865,370...7,869,516
Ensembl chr14:7,865,561...7,868,745
JBrowse link
blue cone monochromacy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1LW opsin 1, medium wave sensitive ISO OMIM NCBI chr  X:121,974,552...121,987,418
Ensembl chr  X:121,974,552...121,987,418
JBrowse link
color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814
JBrowse link
G BDNF brain derived neurotrophic factor susceptibility ISO associated with Alcoholism;DNA:polymorphism:cds:p.V66M(rs6265)(human) RGD PMID:21640793 RGD:8655850 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:14,512,226...14,725,348
Ensembl chr  X:14,512,178...14,725,233
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Color vision defects
ClinVar Annotator: match by term: Achromatopsia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9662398, PMID:11536077, PMID:14757870, PMID:17693388, PMID:23972307, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30418171, PMID:30682209 RGD:734792 NCBI chr10:44,232,716...44,278,555
Ensembl chr10:44,234,004...44,260,746
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 susceptibility ISO DNA:mutations
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10958649, PMID:30418171 RGD:1600870 NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12077706 RGD:1599034 NCBI chr 6:42,259,404...42,271,197
Ensembl chr 6:42,259,702...42,268,082
JBrowse link
G NR2E3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:10655056, PMID:15453866, PMID:15459973, PMID:18294254, PMID:19273793, PMID:19718767, PMID:21217109, PMID:23039133, PMID:23591405, PMID:23989059, PMID:24474277, PMID:25079116, PMID:25097241, PMID:25703721, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr30:35,375,181...35,382,398 JBrowse link
G PDE6B phosphodiesterase 6B ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:7724547, PMID:28041643, PMID:30311386 NCBI chr 3:91,746,571...91,775,372
Ensembl chr 3:91,746,571...91,775,372
JBrowse link
G PDE6H phosphodiesterase 6H ISO CTD Direct Evidence: marker/mechanism CTD PMID:25739440 NCBI chr27:31,640,731...31,664,494
Ensembl chr27:31,640,737...31,664,401
JBrowse link
G RDH5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:30311386, PMID:30718709 NCBI chr10:120,386...125,195
Ensembl chr10:120,057...125,197
JBrowse link
G RP2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:10937588, PMID:20669900, PMID:23150612, PMID:24940031, PMID:28209709, PMID:28492532, PMID:30311386 NCBI chr  X:40,472,525...40,525,726
Ensembl chr  X:40,472,596...40,524,883
JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:14,727,016...14,749,674
Ensembl chr  X:14,727,062...14,749,492
JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:28492532, PMID:30311386 NCBI chr 8:48,651,766...48,920,733
Ensembl chr 8:48,651,814...48,920,039
JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TIMM8A translocase of inner mitochondrial membrane 8A ISO OMIM NCBI chr  X:75,267,437...75,270,288
Ensembl chr  X:75,267,450...75,270,288
JBrowse link
Norrie disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FZD4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:14507768, PMID:15035989, PMID:20340138, PMID:20938005, PMID:24033266, PMID:24744206, PMID:25711638, PMID:25741868, PMID:26908610, PMID:27316669 NCBI chr21:12,699,886...12,709,132
Ensembl chr21:12,699,774...12,724,923
JBrowse link
G NDP norrin cystine knot growth factor NDP ISO OMIM NCBI chr  X:37,949,560...37,975,573
Ensembl chr  X:37,950,489...37,975,346
JBrowse link
G PRSS23 serine protease 23 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:14507768, PMID:15035989, PMID:20340138, PMID:20938005, PMID:24033266, PMID:24744206, PMID:25711638, PMID:25741868, PMID:26908610, PMID:27316669 NCBI chr21:12,792,212...12,813,067
Ensembl chr21:12,793,373...12,803,136
JBrowse link
G TSPAN12 tetraspanin 12 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 NCBI chr14:58,941,658...59,005,507
Ensembl chr14:58,941,551...59,005,463
JBrowse link
red color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1LW opsin 1, medium wave sensitive ISO OMIM NCBI chr  X:121,974,552...121,987,418
Ensembl chr  X:121,974,552...121,987,418
JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 4:22,472,365...22,478,931 JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507, PMID:16963483, PMID:18429043, PMID:19683999, PMID:21174530, PMID:21228398, PMID:21569298, PMID:22135276, PMID:22995991, PMID:24033266, PMID:25474345, PMID:25741868, PMID:26969326, PMID:27018795, PMID:28492532, PMID:30029624, PMID:30718709 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583
JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:18429043, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 4:22,504,888...22,530,702
Ensembl chr 4:22,459,363...22,530,687
JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:21569298, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30245029 NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977
JBrowse link
Seizures, Cortical Blindness, and Microcephaly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIAPH1 diaphanous related formin 1 ISO OMIM NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320
JBrowse link
Usher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:14740321, PMID:15671307, PMID:24033266, PMID:24154662, PMID:25133751, PMID:25404053, PMID:25741868, PMID:26164827, PMID:26467025, PMID:27068579, PMID:27575413, PMID:28041643, PMID:28492532, PMID:29099798 NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
JBrowse link
G ARSG arylsulfatase G ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chr 9:15,048,563...15,115,095
Ensembl chr 9:15,048,588...15,115,101
JBrowse link
G BBS1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255, PMID:12524598, PMID:12677556, PMID:12837689, PMID:15314642, PMID:17980398, PMID:18032602, PMID:18669544, PMID:18766993, PMID:20498079, PMID:21052717, PMID:21642631, PMID:22581970, PMID:22940089, PMID:23143442, PMID:23565731, PMID:23847139, PMID:23943788, PMID:24033266, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26872967, PMID:27032803, PMID:27659767, PMID:28041643, PMID:28492532, PMID:29264490, PMID:30614526, PMID:30718709 NCBI chr18:50,816,126...50,835,354 JBrowse link
G BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,834,642...14,857,242
Ensembl chr38:14,834,643...14,857,227
JBrowse link
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12075507, PMID:15537665, PMID:18273900, PMID:21228398, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 4:22,472,365...22,478,931 JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Hallgren syndrome
ClinVar Annotator: match by term: Usher syndrome
ClinVar PMID:12075507, PMID:15537665, PMID:15660226, PMID:16963483, PMID:17850630, PMID:18273900, PMID:18429043, PMID:19683999, PMID:21174530, PMID:21228398, PMID:21569298, PMID:22135276, PMID:22899989, PMID:22995991, PMID:24033266, PMID:25333064, PMID:25356970, PMID:25474345, PMID:25587757, PMID:25741868, PMID:26467025, PMID:26681316, PMID:26969326, PMID:27018795, PMID:28492532, PMID:28501645, PMID:30029624, PMID:30718709 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G CEP250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881, PMID:25741868 NCBI chr24:24,411,882...24,461,916
Ensembl chr24:24,418,859...24,461,640
JBrowse link
G DUSP10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:16,196,354...16,233,640
Ensembl chr38:16,196,635...16,231,315
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,754,628...14,823,626
Ensembl chr38:14,754,632...14,823,621
JBrowse link
G ESRRG estrogen related receptor gamma ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:11,825,055...12,439,143
Ensembl chr38:11,823,520...12,256,028
JBrowse link
G GPATCH2 G-patch domain containing 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:12,682,263...12,850,587
Ensembl chr38:12,685,619...12,850,529
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583
JBrowse link
G HHIPL2 HHIP like 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:16,791,695...16,818,482
Ensembl chr38:16,791,695...16,818,411
JBrowse link
G HLX H2.0 like homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:15,538,744...15,543,686
Ensembl chr38:15,539,029...15,542,152
JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,864,004...14,925,684
Ensembl chr38:14,863,998...14,925,635
JBrowse link
G LYPLAL1 lysophospholipase like 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,100,818...14,137,292
Ensembl chr38:14,100,698...14,268,481
JBrowse link
G MARK1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:15,270,523...15,341,934
Ensembl chr38:15,273,004...15,340,448
JBrowse link
G MIR194 microRNA mir-194 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,895,401...14,895,458
Ensembl chr38:14,895,401...14,895,458
JBrowse link
G MTARC1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:15,460,548...15,490,941
Ensembl chr38:15,463,548...15,532,241
JBrowse link
G MTARC2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:15,426,884...15,451,701
Ensembl chr38:15,426,666...15,451,136
JBrowse link
G MYO7A myosin VIIA ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Hallgren syndrome
CTD
ClinVar
PMID:3130723, PMID:7568224, PMID:7870171, PMID:8776602, PMID:8900236, PMID:9002678, PMID:9171833, PMID:9259201, PMID:9354784, PMID:9382091, PMID:9718356, PMID:10094549, PMID:10425080, PMID:10447383, PMID:10930322, PMID:12112664, PMID:15028842, PMID:15043528, PMID:15221449, PMID:15660226, PMID:15823922, PMID:15965244, PMID:16400615, PMID:16470552, PMID:16652077, PMID:16679490, PMID:16963483, PMID:17361009, PMID:18181211, PMID:18323324, PMID:18463160, PMID:18484607, PMID:18700726, PMID:19074810, PMID:19299023, PMID:19683999, PMID:20052763, PMID:20132242, PMID:20146813, PMID:20497194, PMID:20513143, PMID:20844544, PMID:21117948, PMID:21150918, PMID:21174530, PMID:21311020, PMID:21436283, PMID:21487335, PMID:21569298, PMID:21738395, PMID:21873662, PMID:22135276, PMID:22681893, PMID:22690115, PMID:22898263, PMID:23208854, PMID:23237960, PMID:23451239, PMID:23591405, PMID:23770805, PMID:24033266, PMID:24164807, PMID:24194196, PMID:24199935, PMID:24831256, PMID:24875298, PMID:25080338, PMID:25333064, PMID:25404053, PMID:25468891, PMID:25472526, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25741868, PMID:25788563, PMID:26226137, PMID:26309859, PMID:26338283, PMID:26445815, PMID:26467025, PMID:26791358, PMID:26872967, PMID:26969326, PMID:27068579, PMID:27208204, PMID:27344577, PMID:27460420, PMID:27583663, PMID:27610647, PMID:27743452, PMID:27957503, PMID:28000701, PMID:28041643, PMID:28439001, PMID:28472130, PMID:28492532, PMID:28944237, PMID:29142287, PMID:29196752, PMID:29490346, PMID:30245029, PMID:30303587, PMID:30311386, PMID:30459346, PMID:30718709, PMID:31479088 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G PCDH15 protocadherin related 15 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
CTD
ClinVar
PMID:12711741, PMID:15028842, PMID:15537665, PMID:15660226, PMID:19309154, PMID:22815625, PMID:24033266, PMID:24105371, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:27460420, PMID:28041643, PMID:28281779, PMID:28492532 NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
G PROM1 prominin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr 3:64,229,487...64,362,346
Ensembl chr 3:64,260,685...64,382,009
JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Hallgren syndrome
ClinVar Annotator: match by term: Usher syndrome
ClinVar PMID:18429043, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,927,670...15,025,554
Ensembl chr38:14,928,628...15,025,865
JBrowse link
G RRP15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:13,377,518...13,416,809
Ensembl chr38:13,377,571...13,421,810
JBrowse link
G SLC30A10 solute carrier family 30 member 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,705,517...14,746,835
Ensembl chr38:14,709,866...14,747,540
JBrowse link
G SPATA17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:12,850,773...13,058,137
Ensembl chr38:12,850,469...13,146,096
JBrowse link
G TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:16,827,853...16,858,506
Ensembl chr38:16,828,205...16,858,432
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:13,430,832...13,511,655
Ensembl chr38:13,429,148...13,510,242
JBrowse link
G USH1C USH1 protein network component harmonin treatment ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Usher syndrome
RGD
ClinVar
PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12630964, PMID:12702164, PMID:14519688, PMID:15578223, PMID:15660226, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:21436283, PMID:21569298, PMID:22135276, PMID:23380860, PMID:24033266, PMID:25741868, PMID:26969326, PMID:28041643, PMID:28492532, PMID:30718709 RGD:8694457, RGD:8694458, RGD:8695937, RGD:8695939 NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
G USH2A usherin susceptibility ISO DNA:snps, insertion:exon, intron:multiple (human)
ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome
RGD
ClinVar
PMID:1968399, PMID:9624053, PMID:10090909, PMID:10729113, PMID:10775529, PMID:10909849, PMID:11311042, PMID:11402400, PMID:12112664, PMID:12427073, PMID:12525556, PMID:14970843, PMID:15015129, PMID:15025721, PMID:15043528, PMID:15241801, PMID:15325563, PMID:15326663, PMID:15823922, PMID:16098008, PMID:16114888, PMID:16963483, PMID:17085681, PMID:17296898, PMID:17405132, PMID:18273898, PMID:18452394, PMID:18463160, PMID:18641288, PMID:18665195, PMID:19023448, PMID:19129697, PMID:19683999, PMID:19737284, PMID:19881469, PMID:20052763, PMID:20145675, PMID:20301515, PMID:20507924, PMID:20591486, PMID:20596040, PMID:21151602, PMID:21174530, PMID:21234346, PMID:21569298, PMID:21686329, PMID:21738395, PMID:22004887, PMID:22009552, PMID:22135276, PMID:22334370, PMID:22495311, PMID:22581970, PMID:22681893, PMID:22952768, PMID:23352160, PMID:23591405, PMID:23737954, PMID:23804846, PMID:23924366, PMID:23940504, PMID:23991284, PMID:24033266, PMID:24088041, PMID:24160897, PMID:24265693, PMID:24498627, PMID:24516651, PMID:24607488, PMID:24625443, PMID:24853665, PMID:24944099, PMID:25078356, PMID:25097241, PMID:25133613, PMID:25133751, PMID:25261458, PMID:25262649, PMID:25324289, PMID:25326637, PMID:25333064, PMID:25356976, PMID:25375654, PMID:25404053, PMID:25412400, PMID:25425308, PMID:25472526, PMID:25521520, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25649381, PMID:25741868, PMID:25823529, PMID:25910913, PMID:25991456, PMID:25999674, PMID:26310143, PMID:26338283, PMID:26633545, PMID:26667666, PMID:26764160, PMID:26766544, PMID:26806561, PMID:26872967, PMID:26927203, PMID:26969326, PMID:27157150, PMID:27160483, PMID:27208204, PMID:27318125, PMID:27460420, PMID:27596865, PMID:27624628, PMID:27957503, PMID:28041643, PMID:28130426, PMID:28157192, PMID:28492532, PMID:28512305, PMID:28559085, PMID:28653555, PMID:28894305, PMID:28944237, PMID:28981474, PMID:29074561, PMID:29142287, PMID:29196752, PMID:29293505, PMID:29343940, PMID:29490346, PMID:29625443, PMID:29767709, PMID:29912909, PMID:29953849, PMID:30190494, PMID:30245029, PMID:30311386, PMID:30337596, PMID:30543658, PMID:30718709, PMID:31877679 RGD:8547956 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
G ZDHHC24 zinc finger DHHC-type containing 24 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255, PMID:12524598, PMID:12677556, PMID:12837689, PMID:15314642, PMID:17980398, PMID:18032602, PMID:18669544, PMID:18766993, PMID:20498079, PMID:21052717, PMID:21642631, PMID:22581970, PMID:22940089, PMID:23143442, PMID:23565731, PMID:23847139, PMID:23943788, PMID:24033266, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26872967, PMID:27032803, PMID:27659767, PMID:28041643, PMID:28492532, PMID:29264490, PMID:30614526, PMID:30718709 NCBI chr18:50,801,179...50,808,480
Ensembl chr18:50,801,303...50,806,877
JBrowse link
Usher syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:21569298, PMID:24033266, PMID:28492532 NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
JBrowse link
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar PMID:12075507, PMID:15537665, PMID:18273900, PMID:21228398, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr 4:22,472,365...22,478,931 JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar PMID:12075507, PMID:15537665, PMID:15660226, PMID:16679490, PMID:16963483, PMID:18273900, PMID:19683999, PMID:20613545, PMID:21228398, PMID:21569298, PMID:21738395, PMID:24033266, PMID:25468891, PMID:25741868, PMID:25788563, PMID:26467025, PMID:28492532 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:18505454, PMID:23023331
G ESPN espin ISO ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:29572253 NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676
JBrowse link
G MYO7A myosin VIIA ISO DNA:insertion:CDS:c.2663_2664insA (human)
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar Annotator: match by term: Usher syndrome, type 1
RGD
ClinVar
PMID:3130723, PMID:7568224, PMID:7870171, PMID:8776602, PMID:8900236, PMID:9002678, PMID:9171833, PMID:9259201, PMID:9354784, PMID:9382091, PMID:9718356, PMID:10094549, PMID:10364543, PMID:10425080, PMID:10447383, PMID:10930322, PMID:12080385, PMID:12112664, PMID:15028842, PMID:15043528, PMID:15121790, PMID:15221449, PMID:15592175, PMID:15606003, PMID:15660226, PMID:15823922, PMID:16400615, PMID:16470552, PMID:16652077, PMID:16679490, PMID:16963483, PMID:17361009, PMID:17960123, PMID:18181211, PMID:18323324, PMID:18463160, PMID:18484607, PMID:18700726, PMID:19074810, PMID:19299023, PMID:19683999, PMID:20052763, PMID:20132242, PMID:20146813, PMID:20497194, PMID:20513143, PMID:20613545, PMID:20844544, PMID:21117948, PMID:21150918, PMID:21174530, PMID:21311020, PMID:21436283, PMID:21487335, PMID:21569298, PMID:21738395, PMID:21873662, PMID:22135276, PMID:22681893, PMID:22690115, PMID:22785243, PMID:22898263, PMID:23226338, PMID:23237960, PMID:23451214, PMID:23451239, PMID:23591405, PMID:23770805, PMID:23804846, PMID:23882135, PMID:24033266, PMID:24164807, PMID:24194196, PMID:24199935, PMID:24498627, PMID:24618850, PMID:24831256, PMID:24875298, PMID:25080338, PMID:25262649, PMID:25333064, PMID:25404053, PMID:25468891, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25741868, PMID:25788563, PMID:26226137, PMID:26445815, PMID:26467025, PMID:26791358, PMID:26872967, PMID:26969326, PMID:27068579, PMID:27208204, PMID:27344577, PMID:27440999, PMID:27460420, PMID:27583663, PMID:27610647, PMID:27743452, PMID:27766948, PMID:27957503, PMID:28008688, PMID:28041643, PMID:28472130, PMID:28492532, PMID:28944237, PMID:29142287, PMID:29490346, PMID:30245029, PMID:30311386, PMID:30459346, PMID:30718709, PMID:31479088 RGD:8694152 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G OTOP2 otopetrin 2 ISO ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:21569298 NCBI chr 9:5,518,178...5,527,783
Ensembl chr 9:5,518,578...5,536,725
JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar PMID:12711741, PMID:15028842, PMID:15537665, PMID:15660226, PMID:16679490, PMID:20672374, PMID:21569298, PMID:22135276, PMID:22183965, PMID:22815625, PMID:23967202, PMID:24033266, PMID:24105371, PMID:24498627, PMID:24618850, PMID:24831256, PMID:25262649, PMID:25307757, PMID:25468891, PMID:25525159, PMID:25741868, PMID:26467025, PMID:27058588, PMID:27208204, PMID:27460420, PMID:27766948, PMID:27861356, PMID:28492532, PMID:30718709 NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
G USH1C USH1 protein network component harmonin onset ISO DNA:mutation:cds: c.216G>A(human)
ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
DNA:deletion:exon:c.1220delG(human)
DNA:mutations:cds,splicing site:p.R103H,c.2227-1G>A(human)
RGD
ClinVar
PMID:9760205, PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12136232, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:16679490, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:20142502, PMID:21436283, PMID:21487335, PMID:21569298, PMID:22135276, PMID:23251578, PMID:23380860, PMID:24033266, PMID:24498627, PMID:25356976, PMID:25741868, PMID:26969326, PMID:28041643, PMID:28492532, PMID:30096381, PMID:30718709 RGD:8695918, RGD:8695919, RGD:8695921 NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar Annotator: match by term: Usher Syndrome Type I
ClinVar PMID:11941484, PMID:12588794, PMID:21569298, PMID:25741868 NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar PMID:21569298, PMID:24033266, PMID:26667666, PMID:28041643, PMID:28492532 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO7A myosin VIIA treatment ISO OMIM
RGD
PMID:23991031 RGD:8694151 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:12711741, PMID:15028842, PMID:15537665, PMID:15660226, PMID:22815625, PMID:24033266, PMID:24105371, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:27460420, PMID:28492532 NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
G USH1C USH1 protein network component harmonin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
CTD
ClinVar
PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:21436283, PMID:21569298, PMID:22135276, PMID:23380860, PMID:24033266, PMID:25741868, PMID:26969326, PMID:28041643, PMID:28492532, PMID:30718709 NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
Usher syndrome type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USH1C USH1 protein network component harmonin ISO OMIM NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: Usher syndrome, type 1D
ClinVar PMID:11090341, PMID:11138009, PMID:12075507, PMID:15537665, PMID:15660226, PMID:17850630, PMID:18273900, PMID:18429043, PMID:20146813, PMID:21228398, PMID:21569298, PMID:21940737, PMID:22135276, PMID:22899989, PMID:24033266, PMID:24875298, PMID:25468891, PMID:25741868, PMID:25991456, PMID:26467025, PMID:28492532 NCBI chr 4:22,472,365...22,478,931 JBrowse link
G CDH23 cadherin related 23 ISO OMIM NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G PCDH15 protocadherin related 15 ISO OMIM NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: Usher syndrome, type 1D
ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
JBrowse link
Usher syndrome type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCDH15 protocadherin related 15 ISO OMIM NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
Usher syndrome type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOP2 otopetrin 2 ISO ClinVar Annotator: match by term: Usher syndrome, type 1G ClinVar PMID:15660226, PMID:17896313, PMID:22135276, PMID:24033266, PMID:25741868, PMID:28224992, PMID:28492532 NCBI chr 9:5,518,178...5,527,783
Ensembl chr 9:5,518,578...5,536,725
JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome, type 1G ClinVar PMID:12711741, PMID:15028842, PMID:22815625, PMID:24033266, PMID:24105371, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:27460420, PMID:28492532 NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
G USH1G USH1 protein network component sans ISO OMIM NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900
JBrowse link
Usher syndrome type 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIB2 calcium and integrin binding family member 2 ISO OMIM
Usher Syndrome Type 1M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESPN espin ISO OMIM NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676
JBrowse link
Usher syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:19357117, PMID:22135276, PMID:22147658, PMID:24033266, PMID:24123792, PMID:25741868, PMID:28492532 NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
G USH2A usherin susceptibility ISO DNA:mutations: :multiple
ClinVar Annotator: match by term: Usher syndrome type 2
DNA:insertion, deletions, snps:multiple (human)
DNA:mutations:multiple (human)
DNA:snp:intron:c.7595-2144A>G (human)
DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human)
RGD
ClinVar
PMID:10729113, PMID:10738000, PMID:10775529, PMID:10909849, PMID:11311042, PMID:12112664, PMID:12525556, PMID:15015129, PMID:15025721, PMID:15043528, PMID:15241801, PMID:15325563, PMID:16963483, PMID:17296898, PMID:17405132, PMID:18273898, PMID:18452394, PMID:18463160, PMID:18641288, PMID:18665195, PMID:19683999, PMID:19881469, PMID:20052763, PMID:20145675, PMID:20507924, PMID:20513143, PMID:21174530, PMID:21234346, PMID:21569298, PMID:21686329, PMID:22004887, PMID:22009552, PMID:22135276, PMID:22495311, PMID:23352160, PMID:23591405, PMID:23924366, PMID:24033266, PMID:24160897, PMID:24498627, PMID:24938718, PMID:24944099, PMID:25078356, PMID:25097241, PMID:25211151, PMID:25262649, PMID:25324289, PMID:25333064, PMID:25356976, PMID:25404053, PMID:25558175, PMID:25575603, PMID:25649381, PMID:25741868, PMID:26310143, PMID:26338283, PMID:26927203, PMID:27032803, PMID:27160483, PMID:27318125, PMID:27344577, PMID:27460420, PMID:28041643, PMID:28130426, PMID:28492532, PMID:28653555, PMID:28894305, PMID:28944237, PMID:28981474, PMID:29142287, PMID:29293505, PMID:29490346, PMID:29625443, PMID:29899460, PMID:30245029, PMID:30311386, PMID:30718709, PMID:30948794 RGD:8547952, RGD:8547962, RGD:8547965, RGD:8547985, RGD:8694137 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
Usher syndrome type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome, type 2A ClinVar NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA ClinVar PMID:2706105, PMID:12075507, PMID:12522556, PMID:15353998, PMID:21940737, PMID:24033266, PMID:25741868, PMID:27460420, PMID:28492532 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G KCTD3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome, type 2A ClinVar PMID:21681106 NCBI chr38:11,016,344...11,059,843
Ensembl chr38:11,008,857...11,084,871
JBrowse link
G PDZD7 PDZ domain containing 7 ISO OMIM NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784
JBrowse link
G USH2A usherin susceptibility ISO DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
DNA:mutations:multiple (human)
OMIM
RGD
PMID:9624053, PMID:10729113 RGD:8547961, RGD:8547987 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
Usher syndrome type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO OMIM NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
JBrowse link
G PDZD7 PDZ domain containing 7 ISO OMIM NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784
JBrowse link
Usher syndrome type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WHRN whirlin ISO OMIM NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977
JBrowse link
Usher syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLRN1 clarin 1 ISO ClinVar Annotator: match by term: Usher Syndrome, Type III
ClinVar Annotator: match by term: Usher syndrome, type 3
ClinVar PMID:7407589, PMID:11524702, PMID:12080385, PMID:12145752, PMID:14569126, PMID:15521980, PMID:16028794, PMID:17407589, PMID:18281613, PMID:19423712, PMID:19753315, PMID:20717163, PMID:21675857, PMID:22681893, PMID:22787034, PMID:23304067, PMID:24033266, PMID:24596593, PMID:25741868, PMID:26180195, PMID:27460420, PMID:28041643, PMID:28492532, PMID:29490346, PMID:30311386 NCBI chr23:45,512,639...45,551,010
Ensembl chr23:45,513,416...45,551,178
JBrowse link
Usher syndrome type 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLRN1 clarin 1 ISO OMIM NCBI chr23:45,512,639...45,551,010
Ensembl chr23:45,513,416...45,551,178
JBrowse link
Usher syndrome type 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HARS1 histidyl-tRNA synthetase 1 ISO OMIM NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583
JBrowse link
Usher Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSG arylsulfatase G ISO OMIM NCBI chr 9:15,048,563...15,115,095
Ensembl chr 9:15,048,588...15,115,101
JBrowse link
Usher Syndrome, Type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:14740321, PMID:15671307, PMID:22135276, PMID:24033266, PMID:25741868, PMID:26164827, PMID:26338283, PMID:27575413, PMID:28041643 NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
JBrowse link
Usher Syndrome, Type ID/F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:12075507, PMID:15537665, PMID:15660226, PMID:24033266 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665, PMID:15660226, PMID:24033266 NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
visual impairment and progressive phthisis bulbi term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MARK3 microtubule affinity regulating kinase 3 ISO OMIM NCBI chr 8:71,148,263...71,269,717
Ensembl chr 8:71,102,690...71,270,399
JBrowse link
Webb-Dattani Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 ISO OMIM NCBI chr 3:57,005,106...57,139,585
Ensembl chr 3:57,008,570...57,159,713
JBrowse link
Wittwer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:11252005, PMID:25741868, PMID:29760529, PMID:29892088, PMID:30345613 NCBI chr 3:62,164,888...62,228,006
Ensembl chr 3:62,167,939...62,228,035
JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DIDMOAD syndrome
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness
ClinVar Annotator: match by term: Wolfram syndrome
CTD
ClinVar
RGD
PMID:9771706, PMID:9817917, PMID:9856492, PMID:10521293, PMID:10679252, PMID:10760554, PMID:11161832, PMID:11244483, PMID:11260218, PMID:11295831, PMID:11317350, PMID:12022290, PMID:12107816, PMID:12754709, PMID:12955714, PMID:15151504, PMID:15234338, PMID:15277431, PMID:15605410, PMID:16151413, PMID:17492394, PMID:17517145, PMID:17568405, PMID:17603484, PMID:18040659, PMID:18414213, PMID:18806274, PMID:19042979, PMID:19344068, PMID:19877185, PMID:20738327, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21446023, PMID:21538838, PMID:21602428, PMID:22226368, PMID:22238590, PMID:22938506, PMID:23429432, PMID:23535966, PMID:23856252, PMID:23981289, PMID:23990876, PMID:24033266, PMID:24088041, PMID:24705017, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26025012, PMID:26435059, PMID:26467025, PMID:26633545, PMID:26875006, PMID:27185633, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:28590052, PMID:29529044, PMID:30014265, PMID:30311386 RGD:1599813 NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO OMIM NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CISD2 CDGSH iron sulfur domain 2 ISO OMIM NCBI chr32:24,257,909...24,274,732
Ensembl chr32:24,257,994...24,274,064
JBrowse link
G SLC9B1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754, PMID:17846994, PMID:25056293 NCBI chr32:24,292,961...24,352,795
Ensembl chr32:24,272,035...24,352,715
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12677
    sensory system disease 4763
      eye disease 2450
        blindness 92
          Amaurosis Fugax 2
          Deaf-Blind Disorders + 50
          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 + 18
          cortical blindness + 1
          visual impairment and progressive phthisis bulbi 1
Path 2
Term Annotations click to browse term
  disease 12677
    disease of anatomical entity 12216
      nervous system disease 9962
        Neurologic Manifestations 3948
          Sensation Disorders 955
            Vision Disorders 194
              blindness 92
                Amaurosis Fugax 2
                Deaf-Blind Disorders + 50
                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 + 18
                cortical blindness + 1
                visual impairment and progressive phthisis bulbi 1
paths to the root

NHLBI Logo

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