Human Phenotype Ontology 
Grandparent Node:
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Abnormal involuntary eye movements (HP:0012547)help
Parent Node:
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Nystagmus (HP:0000639)help
..Starting node
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Horizontal nystagmus (HP:0000666)help
Term ID: 666
Name: Horizontal nystagmus
Synonym: Nystagmus, horizontal
Definition: Nystagmus consisting of horizontal to-and-fro eye movements.
Comments:
Reference: HP:0000666
Genes and Diseases:
 
       Child Nodes:
........expandHorizontal jerk nystagmus (HP:0007286) help
........expandMonocular horizontal nystagmus (HP:0007747) help
........expandHorizontal pendular nystagmus (HP:0007811) help
........expandCongenital horizontal nystagmus (HP:0007859) help
........expandGaze-evoked horizontal nystagmus (HP:0007979) help
........expandHorizontal opticokinetic nystagmus (HP:0008026) help

 Sister Nodes: 
..expandCongenital nystagmus (HP:0006934) help
..expandDivergence nystagmus (HP:0030691) help
..expandGaze-evoked nystagmus (HP:0000640) help
..expandNystagmus-induced head nodding (HP:0001361) help
..expandPendular nystagmus (HP:0012043) help
..expandRotary nystagmus (HP:0001583) help
..expandVertical nystagmus (HP:0010544) help
..expandVestibular nystagmus (HP:0010542) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000666HP:0000666Horizontal nystagmus0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosis116
HP:0000666HP:0000666Horizontal nystagmus0AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndromeHP:0040283 - Occasional60
HP:0000666HP:0000666Horizontal nystagmus0ALDH18A1 CL E G H58329722ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040283 - Occasional89
HP:0000666HP:0000666Horizontal nystagmus0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 36.96
HP:0000666HP:0000666Horizontal nystagmus0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0000666HP:0000666Horizontal nystagmus0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040283 - Occasional64
HP:0000666HP:0000666Horizontal nystagmus0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0000666HP:0000666Horizontal nystagmus0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations1
HP:0000666HP:0000666Horizontal nystagmus0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000666HP:0000666Horizontal nystagmus0ATG5 CL E G H9474589OMIM:617584Spinocerebellar ataxia, autosomal recessive 251
HP:0000666HP:0000666Horizontal nystagmus0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040282 - Frequent100
HP:0000666HP:0000666Horizontal nystagmus0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraine239
HP:0000666HP:0000666Horizontal nystagmus0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosis
HP:0000666HP:0000666Horizontal nystagmus0BEAN1 CL E G H14622724160OMIM:117210Spinocerebellar ataxia 311
HP:0000666HP:0000666Horizontal nystagmus0BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 8.42
HP:0000666HP:0000666Horizontal nystagmus0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraine449
HP:0000666HP:0000666Horizontal nystagmus0CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6449
HP:0000666HP:0000666Horizontal nystagmus0CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 4232
HP:0000666HP:0000666Horizontal nystagmus0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 4232
HP:0000666HP:0000666Horizontal nystagmus0CNGB3 CL E G H547142153OMIM:262300Achromatopsia 3194
HP:0000666HP:0000666Horizontal nystagmus0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0000666HP:0000666Horizontal nystagmus0COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000666HP:0000666Horizontal nystagmus0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0000666HP:0000666Horizontal nystagmus0DAB1 CL E G H16002661ORPHA:363710Spinocerebellar ataxia type 37HP:0040282 - Frequent4
HP:0000666HP:0000666Horizontal nystagmus0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1.94
HP:0000666HP:0000666Horizontal nystagmus0DPP6 CL E G H18043010ORPHA:2514Autosomal dominant primary microcephalyHP:0040283 - Occasional18
HP:0000666HP:0000666Horizontal nystagmus0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040283 - Occasional18
HP:0000666HP:0000666Horizontal nystagmus0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000666HP:0000666Horizontal nystagmus0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0000666HP:0000666Horizontal nystagmus0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040282 - Frequent76
HP:0000666HP:0000666Horizontal nystagmus0FAR1 CL E G H8418826222ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040283 - Occasional7
HP:0000666HP:0000666Horizontal nystagmus0FRMD7 CL E G H901678079OMIM:310700Nystagmus 1, congenital, X-linked.38
HP:0000666HP:0000666Horizontal nystagmus0GATA3 CL E G H26254172OMIM:146255Hypoparathyroidism, sensorineural deafness, and renal dysplasia83
HP:0000666HP:0000666Horizontal nystagmus0GBA1 CL E G H26294177OMIM:231005Gaucher disease, type IIIC.
HP:0000666HP:0000666Horizontal nystagmus0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040283 - Occasional86
HP:0000666HP:0000666Horizontal nystagmus0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0000666HP:0000666Horizontal nystagmus0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0000666HP:0000666Horizontal nystagmus0GPR143 CL E G H493520145OMIM:300814Nystagmus 6, congenital, X-linked.64
HP:0000666HP:0000666Horizontal nystagmus0GRID2 CL E G H28954576ORPHA:363432Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiencyHP:0040282 - Frequent18
HP:0000666HP:0000666Horizontal nystagmus0GRID2 CL E G H28954576OMIM:616204SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR1818
HP:0000666HP:0000666Horizontal nystagmus0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000666HP:0000666Horizontal nystagmus0GRM1 CL E G H29114593ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency8
HP:0000666HP:0000666Horizontal nystagmus0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0000666HP:0000666Horizontal nystagmus0HARS1 CL E G H30354816OMIM:614504Usher syndrome, type IIIB.
HP:0000666HP:0000666Horizontal nystagmus0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0000666HP:0000666Horizontal nystagmus0HPS3 CL E G H8434315597OMIM:614072Hermansky-Pudlak syndrome 367
HP:0000666HP:0000666Horizontal nystagmus0HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4.123
HP:0000666HP:0000666Horizontal nystagmus0HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5.105
HP:0000666HP:0000666Horizontal nystagmus0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0000666HP:0000666Horizontal nystagmus0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0000666HP:0000666Horizontal nystagmus0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040283 - Occasional1
HP:0000666HP:0000666Horizontal nystagmus0IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndromeHP:0040283 - Occasional119
HP:0000666HP:0000666Horizontal nystagmus0ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15177
HP:0000666HP:0000666Horizontal nystagmus0KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 1935
HP:0000666HP:0000666Horizontal nystagmus0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0000666HP:0000666Horizontal nystagmus0KCNV2 CL E G H16952219698OMIM:610356Retinal cone dystrophy 3B.73
HP:0000666HP:0000666Horizontal nystagmus0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040282 - Frequent38
HP:0000666HP:0000666Horizontal nystagmus0KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive.38
HP:0000666HP:0000666Horizontal nystagmus0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6.136
HP:0000666HP:0000666Horizontal nystagmus0LMNB1 CL E G H40016637ORPHA:2514Autosomal dominant primary microcephalyHP:0040283 - Occasional44
HP:0000666HP:0000666Horizontal nystagmus0LRP5 CL E G H40416697OMIM:601813Exudative vitreoretinopathy 4125
HP:0000666HP:0000666Horizontal nystagmus0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040283 - Occasional239
HP:0000666HP:0000666Horizontal nystagmus0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome.
HP:0000666HP:0000666Horizontal nystagmus0MARS2 CL E G H9293525133ORPHA:314603Autosomal recessive spastic ataxia with leukoencephalopathyHP:0040282 - Frequent25
HP:0000666HP:0000666Horizontal nystagmus0MARS2 CL E G H9293525133OMIM:611390Spastic ataxia 3, autosomal recessive.25
HP:0000666HP:0000666Horizontal nystagmus0MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0000666HP:0000666Horizontal nystagmus0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040283 - Occasional40
HP:0000666HP:0000666Horizontal nystagmus0NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0000666HP:0000666Horizontal nystagmus0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040283 - Occasional27
HP:0000666HP:0000666Horizontal nystagmus0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 584
HP:0000666HP:0000666Horizontal nystagmus0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosis7
HP:0000666HP:0000666Horizontal nystagmus0OPA1 CL E G H49768140OMIM:165500Optic atrophy 1214
HP:0000666HP:0000666Horizontal nystagmus0OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy.214
HP:0000666HP:0000666Horizontal nystagmus0PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000666HP:0000666Horizontal nystagmus0PDGFRB CL E G H51598804OMIM:615007Basal ganglia calcification, idiopathic, 428
HP:0000666HP:0000666Horizontal nystagmus0PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0000666HP:0000666Horizontal nystagmus0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0000666HP:0000666Horizontal nystagmus0PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0000666HP:0000666Horizontal nystagmus0PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriersHP:0040283 - Occasional60
HP:0000666HP:0000666Horizontal nystagmus0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism.67
HP:0000666HP:0000666Horizontal nystagmus0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraine94
HP:0000666HP:0000666Horizontal nystagmus0PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0000666HP:0000666Horizontal nystagmus0RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000666HP:0000666Horizontal nystagmus0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-Saguenay309
HP:0000666HP:0000666Horizontal nystagmus0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraine1053
HP:0000666HP:0000666Horizontal nystagmus0SIX6 CL E G H499010892OMIM:212550Optic disc anomalies with retinal and/or macular dystrophy.20
HP:0000666HP:0000666Horizontal nystagmus0SNIP1 CL E G H7975330587OMIM:614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism.3
HP:0000666HP:0000666Horizontal nystagmus0SOX3 CL E G H665811199ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiency24
HP:0000666HP:0000666Horizontal nystagmus0SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxiaHP:0040283 - Occasional126
HP:0000666HP:0000666Horizontal nystagmus0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0000666HP:0000666Horizontal nystagmus0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040283 - Occasional14
HP:0000666HP:0000666Horizontal nystagmus0SURF1 CL E G H683411474OMIM:616684Charcot-Marie-Tooth disease, type 4K73
HP:0000666HP:0000666Horizontal nystagmus0SYT14 CL E G H25592823143ORPHA:284271Autosomal recessive cerebellar ataxia-psychomotor delay syndrome4
HP:0000666HP:0000666Horizontal nystagmus0TAF2 CL E G H687311536ORPHA:397951Microcephaly-thin corpus callosum-intellectual disability syndromeHP:0040283 - Occasional7
HP:0000666HP:0000666Horizontal nystagmus0TBC1D24 CL E G H5746529203OMIM:608105Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp.271
HP:0000666HP:0000666Horizontal nystagmus0TBC1D24 CL E G H5746529203ORPHA:163727Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndromeHP:0040282 - Frequent271
HP:0000666HP:0000666Horizontal nystagmus0THG1L CL E G H5497426053OMIM:618800SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000666HP:0000666Horizontal nystagmus0TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0000666HP:0000666Horizontal nystagmus0TMEM126A CL E G H8423325382OMIM:612989Optic atrophy 7 with or without auditory neuropathyHP:0040283 - Occasional23
HP:0000666HP:0000666Horizontal nystagmus0TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaHP:0040282 - Frequent203
HP:0000666HP:0000666Horizontal nystagmus0TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0000666HP:0000666Horizontal nystagmus0TTBK2 CL E G H14605719141ORPHA:98767Spinocerebellar ataxia type 11HP:0040281 - Very frequent57
HP:0000666HP:0000666Horizontal nystagmus0UROC1 CL E G H13166926444ORPHA:210128Urocanic aciduria8
HP:0000666HP:0000666Horizontal nystagmus0XRCC1 CL E G H751512828OMIM:617633Spinocerebellar ataxia, autosomal recessive 264
HP:0000666HP:0008026Horizontal opticokinetic nystagmus1 CL E G H
HP:0000666HP:0007747Monocular horizontal nystagmus1 CL E G H
HP:0000666HP:0007286Horizontal jerk nystagmus1 CL E G H
HP:0000666HP:0007811Horizontal pendular nystagmus1ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0000666HP:0007811Horizontal pendular nystagmus1ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations1
HP:0000666HP:0007979Gaze-evoked horizontal nystagmus1ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional239
HP:0000666HP:0007811Horizontal pendular nystagmus1ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0000666HP:0007979Gaze-evoked horizontal nystagmus1BEAN1 CL E G H14622724160OMIM:117210Spinocerebellar ataxia 31HP:0040282 - Frequent1
HP:0000666HP:0007979Gaze-evoked horizontal nystagmus1CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional449
HP:0000666HP:0007979Gaze-evoked horizontal nystagmus1CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6HP:0040281 - Very frequent449
HP:0000666HP:0007979Gaze-evoked horizontal nystagmus1CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 42HP:0040282 - Frequent32
HP:0000666HP:0007811Horizontal pendular nystagmus1CNGB3 CL E G H547142153OMIM:262300Achromatopsia 3.194
HP:0000666HP:0007979Gaze-evoked horizontal nystagmus1GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0000666HP:0007859Congenital horizontal nystagmus1GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000666HP:0007979Gaze-evoked horizontal nystagmus1GRM1 CL E G H29114593ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiencyHP:0040283 - Occasional8
HP:0000666HP:0007979Gaze-evoked horizontal nystagmus1GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0000666HP:0007979Gaze-evoked horizontal nystagmus1ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15.177
HP:0000666HP:0007979Gaze-evoked horizontal nystagmus1KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 19.35
HP:0000666HP:0007811Horizontal pendular nystagmus1LRP5 CL E G H40416697OMIM:601813Exudative vitreoretinopathy 4.125
HP:0000666HP:0007811Horizontal pendular nystagmus1NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent7
HP:0000666HP:0007979Gaze-evoked horizontal nystagmus1PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000666HP:0007979Gaze-evoked horizontal nystagmus1PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional94
HP:0000666HP:0007979Gaze-evoked horizontal nystagmus1RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000666HP:0007979Gaze-evoked horizontal nystagmus1SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040282 - Frequent309
HP:0000666HP:0007979Gaze-evoked horizontal nystagmus1SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional1053
HP:0000666HP:0007979Gaze-evoked horizontal nystagmus1SOX3 CL E G H665811199ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiencyHP:0040283 - Occasional24
HP:0000666HP:0007979Gaze-evoked horizontal nystagmus1SYT14 CL E G H25592823143ORPHA:284271Autosomal recessive cerebellar ataxia-psychomotor delay syndromeHP:0040282 - Frequent4
HP:0000666HP:0007979Gaze-evoked horizontal nystagmus1THG1L CL E G H5497426053OMIM:618800SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000666HP:0007811Horizontal pendular nystagmus1TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0000666HP:0007979Gaze-evoked horizontal nystagmus1UROC1 CL E G H13166926444ORPHA:210128Urocanic aciduriaHP:0040281 - Very frequent8


Genes (95) :ADAR AIFM1 ALDH18A1 ALG13 ALX4 ANO10 AP3B1 ARHGEF2 ASH1L ATG5 ATP13A2 ATP1A2 ATP6 BEAN1 BLOC1S3 CACNA1A CACNA1G CNGB3 COL18A1 COQ5 CWF19L1 DAB1 DNM1L DPP6 ERLIN2 EXOSC5 EXOSC9 FA2H FAR1 FRMD7 GATA3 GBA1 GCH1 GMPPA GPR143 GRID2 GRIK2 GRM1 HARS1 HMX1 HPS3 HPS4 HPS5 IARS2 IDH1 IMPDH2 IQSEC2 ITPR1 KCND3 KCNH1 KCNV2 KIF1C LARGE1 LMNB1 LRP5 LYST MAB21L1 MARS2 MRPL12 NFIX NMNAT1 NR4A2 NSUN2 NUP62 OPA1 PAX7 PDGFRB PET100 PEX16 PEX5 PLP1 POLR3B PRRT2 PSAP RBL2 SACS SCN1A SIX6 SNIP1 SOX3 SPTBN2 SPTBN4 STUB1 SURF1 SYT14 TAF2 TBC1D24 THG1L TMEM106B TMEM126A TPP1 TRAPPC6B TTBK2 UROC1 XRCC1

Diseases (95) :ORPHA:225154 ORPHA:83629 ORPHA:447753 OMIM:300884 OMIM:613451 ORPHA:284289 OMIM:608233 OMIM:617523 OMIM:617796 OMIM:617584 ORPHA:513436 ORPHA:569 OMIM:117210 OMIM:614077 ORPHA:98758 OMIM:616795 ORPHA:458803 OMIM:262300 OMIM:267750 OMIM:619028 ORPHA:453521 ORPHA:363710 OMIM:614388 ORPHA:2514 ORPHA:209951 OMIM:619576 OMIM:618065 ORPHA:329308 OMIM:310700 OMIM:146255 OMIM:231005 ORPHA:98808 OMIM:128230 OMIM:615510 OMIM:300814 ORPHA:363432 OMIM:616204 OMIM:619580 ORPHA:324262 OMIM:614831 OMIM:614504 OMIM:612109 OMIM:614072 OMIM:614073 OMIM:614074 OMIM:616007 ORPHA:99646 ORPHA:397933 OMIM:606658 OMIM:607346 OMIM:135500 OMIM:610356 ORPHA:397946 OMIM:611302 OMIM:608840 OMIM:601813 ORPHA:167 OMIM:618479 ORPHA:314603 OMIM:611390 OMIM:618951 ORPHA:447980 OMIM:608553 OMIM:611091 OMIM:165500 OMIM:125250 OMIM:618578 OMIM:615007 OMIM:619055 OMIM:614877 OMIM:616716 ORPHA:280229 OMIM:614381 OMIM:610539 OMIM:619690 ORPHA:98 OMIM:212550 OMIM:614501 ORPHA:67045 ORPHA:352403 OMIM:617519 ORPHA:412057 OMIM:616684 ORPHA:284271 ORPHA:397951 OMIM:608105 ORPHA:163727 OMIM:618800 OMIM:617964 OMIM:612989 ORPHA:284324 OMIM:617862 ORPHA:98767 ORPHA:210128 OMIM:617633
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.