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amblyopia - Ontology Report - Rat Genome Database

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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:amblyopia
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Accession:DOID:10376 term browser browse the term
Definition:An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward. (DO)
Synonyms:exact_synonym: Anisometropic Amblyopia;   Developmental Amblyopia;   Developmental Amblyopias;   amblyopias;   anisometropic amblyopias;   lazy eye;   lazy eyes
 primary_id: MESH:D000550
 xref: ICD10CM:H53.00;   ICD9CM:368.00;   MONDO:0001020;   NCI:C118764
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
amblyopia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Erbb2 erb-b2 receptor tyrosine kinase 2 ISO protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chrNW_004624795:3,373,313...3,391,509
Ensembl chrNW_004624795:3,373,000...3,391,602 		JBrowse link
G G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952 		JBrowse link
G P ERBB2 erb-b2 receptor tyrosine kinase 2 ISO protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351 		JBrowse link
G S Erbb2 erb-b2 receptor tyrosine kinase 2 ISO protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chrNW_004936490:14,887,062...14,910,038
Ensembl chrNW_004936490:14,887,043...14,909,956 		JBrowse link
G D ERBB2 erb-b2 receptor tyrosine kinase 2 ISO protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294 		JBrowse link
G B ERBB2 erb-b2 receptor tyrosine kinase 2 ISO protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862 		JBrowse link
G C Erbb2 erb-b2 receptor tyrosine kinase 2 ISO protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chrNW_004955451:14,442,816...14,456,009
Ensembl chrNW_004955451:14,442,816...14,459,379 		JBrowse link
G R Erbb2 erb-b2 receptor tyrosine kinase 2 IEP protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G M Erbb2 erb-b2 receptor tyrosine kinase 2 ISO protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542 		JBrowse link
G H ERBB2 erb-b2 receptor tyrosine kinase 2 ISO protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G N Erbb3 erb-b2 receptor tyrosine kinase 3 ISO protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chrNW_004624802:11,906,279...11,925,530
Ensembl chrNW_004624802:11,905,271...11,925,707 		JBrowse link
G G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr11:52,020,912...52,043,809
Ensembl chr11:52,021,058...52,044,028 		JBrowse link
G P ERBB3 erb-b2 receptor tyrosine kinase 3 ISO protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr 5:21,474,218...21,495,040
Ensembl chr 5:21,474,475...21,495,038 		JBrowse link
G S Erbb3 erb-b2 receptor tyrosine kinase 3 ISO protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chrNW_004936646:497,783...515,247
Ensembl chrNW_004936646:498,749...513,297 		JBrowse link
G D ERBB3 erb-b2 receptor tyrosine kinase 3 ISO protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr10:406,856...424,746
Ensembl chr10:406,633...424,264 		JBrowse link
G B ERBB3 erb-b2 receptor tyrosine kinase 3 ISO protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994 		JBrowse link
G C Erbb3 erb-b2 receptor tyrosine kinase 3 ISO protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chrNW_004955458:3,683,126...3,701,752
Ensembl chrNW_004955458:3,683,126...3,702,978 		JBrowse link
G R Erbb3 erb-b2 receptor tyrosine kinase 3 IEP protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:996,225...1,015,525 		JBrowse link
G M Erbb3 erb-b2 receptor tyrosine kinase 3 ISO protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521 		JBrowse link
G H ERBB3 erb-b2 receptor tyrosine kinase 3 ISO protein:increased expression, increased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G N Erbb4 erb-b2 receptor tyrosine kinase 4 ISO protein:decreased expression, decreased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chrNW_004624765:3,612,781...4,742,219
Ensembl chrNW_004624765:3,613,379...4,734,585 		JBrowse link
G G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO protein:decreased expression, decreased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr10:97,099,090...98,281,697 JBrowse link
G P ERBB4 erb-b2 receptor tyrosine kinase 4 ISO protein:decreased expression, decreased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,974,437...115,096,565 		JBrowse link
G S Erbb4 erb-b2 receptor tyrosine kinase 4 ISO protein:decreased expression, decreased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chrNW_004936586:4,065,767...5,100,690
Ensembl chrNW_004936586:4,066,498...5,100,035 		JBrowse link
G D ERBB4 erb-b2 receptor tyrosine kinase 4 ISO protein:decreased expression, decreased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426 		JBrowse link
G B ERBB4 erb-b2 receptor tyrosine kinase 4 ISO protein:decreased expression, decreased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006 		JBrowse link
G C Erbb4 erb-b2 receptor tyrosine kinase 4 ISO protein:decreased expression, decreased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chrNW_004955457:3,177,905...4,236,152
Ensembl chrNW_004955457:3,177,991...4,228,558 		JBrowse link
G R Erbb4 erb-b2 receptor tyrosine kinase 4 IEP protein:decreased expression, decreased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G M Erbb4 erb-b2 receptor tyrosine kinase 4 ISO protein:decreased expression, decreased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218 		JBrowse link
G H ERBB4 erb-b2 receptor tyrosine kinase 4 ISO protein:decreased expression, decreased phosphorylation:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841 		JBrowse link
G N Nrg1 neuregulin 1 ISO protein:decreased expression:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chrNW_004624780:11,297,306...11,525,236
Ensembl chrNW_004624780:11,301,182...12,424,066 		JBrowse link
G G NRG1 neuregulin 1 ISO protein:decreased expression:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr 8:29,745,984...30,862,140
Ensembl chr 8:30,635,803...30,856,487 		JBrowse link
G P NRG1 neuregulin 1 ISO protein:decreased expression:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,630,679...52,839,505 		JBrowse link
G S Nrg1 neuregulin 1 ISO protein:decreased expression:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chrNW_004936766:1,104,841...1,306,368
Ensembl chrNW_004936766:1,104,728...1,305,972 		JBrowse link
G D NRG1 neuregulin 1 ISO protein:decreased expression:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr16:31,697,958...32,771,888
Ensembl chr16:31,706,851...32,771,932 		JBrowse link
G B NRG1 neuregulin 1 ISO protein:decreased expression:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977 		JBrowse link
G C Nrg1 neuregulin 1 ISO protein:decreased expression:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chrNW_004955463:8,009,436...9,037,116
Ensembl chrNW_004955463:8,009,530...9,037,116 		JBrowse link
G R Nrg1 neuregulin 1 IEP protein:decreased expression:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr16:65,954,084...67,007,484
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G M Nrg1 neuregulin 1 ISO protein:decreased expression:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825
Ensembl chr 8:32,304,579...33,374,825 		JBrowse link
G H NRG1 neuregulin 1 ISO protein:decreased expression:visual cortex RGD PMID:34273906 RGD:405649729 NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666 		JBrowse link
G N Ppargc1a PPARG coactivator 1 alpha ISO protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chrNW_004624755:7,826,219...8,460,746
Ensembl chrNW_004624755:8,375,596...8,465,297 		JBrowse link
G G PPARGC1A PPARG coactivator 1 alpha ISO protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chr27:25,882,385...26,563,530
Ensembl chr27:26,465,499...26,564,582 		JBrowse link
G P PPARGC1A PPARG coactivator 1 alpha ISO protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992 		JBrowse link
G S Ppargc1a PPARG coactivator 1 alpha ISO protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chrNW_004936477:4,881,230...5,488,208
Ensembl chrNW_004936477:5,199,881...5,488,226 		JBrowse link
G D PPARGC1A PPARG coactivator 1 alpha ISO protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269 		JBrowse link
G B PPARGC1A PPARG coactivator 1 alpha ISO protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212 		JBrowse link
G C Ppargc1a PPARG coactivator 1 alpha ISO protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435 		JBrowse link
G R Ppargc1a PPARG coactivator 1 alpha IEP protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G M Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha ISO protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068 		JBrowse link
G H PPARGC1A PPARG coactivator 1 alpha ISO protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G N Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Amblyopia ClinVar PMID:25741868 NCBI chrNW_004624756:15,413,950...15,436,037
Ensembl chrNW_004624756:15,418,260...15,436,379 		JBrowse link
G G TFAP2A transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Amblyopia ClinVar PMID:25741868 NCBI chr17:61,750,757...61,769,041 JBrowse link
G P TFAP2A transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Amblyopia ClinVar PMID:25741868 NCBI chr 7:7,221,654...7,244,626
Ensembl chr 7:7,221,656...7,244,612 		JBrowse link
G S Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Amblyopia ClinVar PMID:25741868 NCBI chrNW_004936534:2,481,804...2,518,573
Ensembl chrNW_004936534:2,481,806...2,499,317 		JBrowse link
G D TFAP2A transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Amblyopia ClinVar PMID:25741868 NCBI chr35:10,157,043...10,180,484
Ensembl chr35:10,157,882...10,180,270 		JBrowse link
G B TFAP2A transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Amblyopia ClinVar PMID:25741868 NCBI chr 6:10,237,834...10,260,843 JBrowse link
G C Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Amblyopia ClinVar PMID:25741868 NCBI chrNW_004955465:3,877,896...3,900,259
Ensembl chrNW_004955465:3,882,549...3,898,929 		JBrowse link
G R Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Amblyopia ClinVar PMID:25741868 NCBI chr17:24,230,064...24,253,219
Ensembl chr17:24,024,432...24,047,507 		JBrowse link
G M Tfap2a transcription factor AP-2, alpha ISO ClinVar Annotator: match by term: Amblyopia ClinVar PMID:25741868 NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852 		JBrowse link
G H TFAP2A transcription factor AP-2 alpha IAGP ClinVar Annotator: match by term: Amblyopia ClinVar PMID:25741868 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
G N Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Amblyopia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chrNW_004624801:5,320,482...5,329,125
Ensembl chrNW_004624801:5,320,556...5,329,131 		JBrowse link
G G TSEN54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Amblyopia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr16:46,152,547...46,162,328
Ensembl chr16:46,152,869...46,161,379 		JBrowse link
G P TSEN54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Amblyopia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr12:5,847,170...5,855,791
Ensembl chr12:5,847,187...5,854,882 		JBrowse link
G S Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Amblyopia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chrNW_004936594:744,531...753,350
Ensembl chrNW_004936594:744,494...753,350 		JBrowse link
G D TSEN54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Amblyopia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr 9:5,009,468...5,016,513
Ensembl chr 9:5,009,468...5,016,483 		JBrowse link
G B TSEN54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Amblyopia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr17:69,465,488...69,474,667
Ensembl chr17:75,017,351...75,025,166 		JBrowse link
G C Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Amblyopia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chrNW_004955553:2,367,476...2,376,704
Ensembl chrNW_004955553:2,367,480...2,376,704 		JBrowse link
G R Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Amblyopia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087 		JBrowse link
G M Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Amblyopia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr11:115,704,563...115,713,928
Ensembl chr11:115,705,550...115,713,920 		JBrowse link
G H TSEN54 tRNA splicing endonuclease subunit 54 IAGP ClinVar Annotator: match by term: Amblyopia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      eye disease 42489
        amblyopia 89
          Hemifacial Hyperplasia with Strabismus 0
          Mental and Growth Retardation with Amblyopia 0
          deprivation amblyopia 0
          refractive amblyopia 0
          strabismic amblyopia 0
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        Neurologic Manifestations 126178
          sensory system disease 89068
            eye disease 42489
              Vision Disorders 2149
                amblyopia 89
                  Hemifacial Hyperplasia with Strabismus 0
                  Mental and Growth Retardation with Amblyopia 0
                  deprivation amblyopia 0
                  refractive amblyopia 0
                  strabismic amblyopia 0
paths to the root