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ONTOLOGY REPORT - ANNOTATIONS


Term:pathologic nystagmus
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Accession:DOID:9650 term browser browse the term
Definition:Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
Synonyms:exact_synonym: Conjugate Nystagmus;   Convergence Nystagmus;   Fatigable Positional Nystagmus;   Horizontal Nystagmus;   Jerk Nystagmus;   Multidirectional Nystagmus;   Non Fatigable Positional Nystagmus;   Nystagmus;   Pendular Nystagmus;   Periodic Alternating Nystagmus;   Permanent Nystagmus;   Rebound Nystagmus;   Retraction Nystagmus;   Rotary Nystagmus;   Rotational Nystagmus;   See Saw Nystagmus;   Symptomatic Nystagmus;   Temporary Nystagmus;   Unidirectional Nystagmus;   Vertical Nystagmus
 primary_id: MESH:D009759;   RDO:0000649
 xref: ICD10CM:H55.0;   ICD10CM:H55.00;   ICD9CM:379.50;   NCI:C3282
For additional species annotation, visit the Alliance of Genome Resources.


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pathologic nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:8554872
G Col18a1 collagen type XVIII alpha 1 chain JBrowse link 20 12,225,202 12,332,858 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:8554872
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:8554872
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:8554872
G Kif4a kinesin family member 4A JBrowse link X 70,461,700 70,561,084 RGD:8554872
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Ndp norrin cystine knot growth factor NDP JBrowse link X 6,791,090 6,815,586 RGD:8554872
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:11554173
G Rubcn rubicon autophagy regulator JBrowse link 11 71,150,506 71,199,254 RGD:8554872
G Setx senataxin JBrowse link 3 7,680,430 7,731,815 RGD:8554872
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:8554872
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8554872
congenital nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahr aryl hydrocarbon receptor JBrowse link 6 54,963,990 55,001,806 RGD:11554173
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:11554173
G Frmd7 FERM domain containing 7 JBrowse link X 138,095,707 138,149,702 RGD:8554872
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:13592920
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:11537385
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8552281
episodic ataxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:1358446
RGD:8554872
RGD:11554173
RGD:7240710
Foveal Hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nrl neural retina leucine zipper JBrowse link 15 34,197,115 34,201,408 RGD:8554872
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
G Slc38a8 solute carrier family 38, member 8 JBrowse link 19 52,110,517 52,142,500 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8554872
Foveal Hypoplasia and Anterior Segment Dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc38a8 solute carrier family 38, member 8 JBrowse link 19 52,110,517 52,142,500 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:8554872
RGD:11554173
Nystagmus 1, Congenital, X- Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frmd7 FERM domain containing 7 JBrowse link X 138,095,707 138,149,702 RGD:7240710
RGD:8554872
RGD:11554173
Nystagmus 6, Congenital, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:7240710
RGD:8554872
O'Donnell Pappas Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kidins220 kinase D-interacting substrate 220 JBrowse link 6 44,225,142 44,322,938 RGD:8554872
RGD:7240710
Zonular Cataract and Nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15610
    sensory system disease 4770
      eye disease 2339
        ocular motility disease 114
          pathologic nystagmus 33
            Hereditary Vertical Nystagmus 0
            Myoclonic Nystagmus 0
            Neuhauser Daly Magnelli Syndrome 0
            Singh Chhaparwal Dhanda Syndrome 0
            Split Hand Split Foot Nystagmus 0
            Zonular Cataract and Nystagmus 1
            congenital nystagmus + 13
            dissociated nystagmus 0
            episodic ataxia type 2 1
            spontaneous ocular nystagmus 0
Path 2
Term Annotations click to browse term
  disease 15610
    disease of anatomical entity 14968
      nervous system disease 10400
        peripheral nervous system disease 2183
          neuropathy 2006
            cranial nerve disease 369
              ocular motility disease 114
                pathologic nystagmus 33
                  Hereditary Vertical Nystagmus 0
                  Myoclonic Nystagmus 0
                  Neuhauser Daly Magnelli Syndrome 0
                  Singh Chhaparwal Dhanda Syndrome 0
                  Split Hand Split Foot Nystagmus 0
                  Zonular Cataract and Nystagmus 1
                  congenital nystagmus + 13
                  dissociated nystagmus 0
                  episodic ataxia type 2 1
                  spontaneous ocular nystagmus 0
paths to the root

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