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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000666HP:0000666Horizontal nystagmus0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM11430881300776
HP:0000666HP:0000666Horizontal nystagmus0ATP13A2 CL E G H23400513436ORPHA14430213610513
HP:0000666HP:0000666Horizontal nystagmus0BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM1420914609762
HP:0000666HP:0000666Horizontal nystagmus0CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM1121394604065
HP:0000666HP:0000666Horizontal nystagmus0CWF19L1 CL E G H55280453521ORPHA1525613616120
HP:0000666HP:0000666Horizontal nystagmus0DAB1 CL E G H1600363710ORPHA122661603448
HP:0000666HP:0000666Horizontal nystagmus0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM1202973603850
HP:0000666HP:0000666Horizontal nystagmus0FRMD7 CL E G H90167310700Infantile nystagmus, X-linked310700C1839580OMIM1958079300628
HP:0000666HP:0000666Horizontal nystagmus0GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM14944177606463
HP:0000666HP:0000666Horizontal nystagmus0GPR143 CL E G H4935300814Nystagmus 6, congenital, X-linked300814C3151752OMIM118120145300808
HP:0000666HP:0000666Horizontal nystagmus0GRID2 CL E G H2895363432ORPHA1214576602368
HP:0000666HP:0000666Horizontal nystagmus0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM1204593604473
HP:0000666HP:0000666Horizontal nystagmus0HARS CL E G H3035614504Usher syndrome, type 3B614504C3281066OMIM1134816142810
HP:0000666HP:0000666Horizontal nystagmus0HPS3 CL E G H84343614072Hermansky-Pudlak syndrome 3614072C3888001OMIM11715597606118
HP:0000666HP:0000666Horizontal nystagmus0HPS4 CL E G H89781614073Hermansky-Pudlak syndrome 4614073C3484357OMIM12315844606682
HP:0000666HP:0000666Horizontal nystagmus0HPS5 CL E G H11234614074Hermansky-Pudlak syndrome 5614074C3888004OMIM13117022607521
HP:0000666HP:0000666Horizontal nystagmus0KCNV2 CL E G H169522610356Retinal cone dystrophy 3B610356C1835897OMIM19419698607604
HP:0000666HP:0000666Horizontal nystagmus0KIF1C CL E G H10749397946ORPHA1176317603060
HP:0000666HP:0000666Horizontal nystagmus0KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM1176317603060
HP:0000666HP:0000666Horizontal nystagmus0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM1286511603590
HP:0000666HP:0000666Horizontal nystagmus0MARS2 CL E G H92935314603ORPHA1625133609728
HP:0000666HP:0000666Horizontal nystagmus0MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM1625133609728
HP:0000666HP:0000666Horizontal nystagmus0OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM13948140605290
HP:0000666HP:0000666Horizontal nystagmus0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM15830348614366
HP:0000666HP:0000666Horizontal nystagmus0SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM11110892606326
HP:0000666HP:0000666Horizontal nystagmus0SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM1130587608241
HP:0000666HP:0000666Horizontal nystagmus0SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM112811474185620
HP:0000666HP:0000666Horizontal nystagmus0TPP1 CL E G H1200284324ORPHA11152073607998
HP:0000666HP:0000666Horizontal nystagmus0TTBK2 CL E G H14605798767ORPHA11119141611695
HP:0000666HP:0000666Horizontal nystagmus1ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM11430881300776
HP:0000666HP:0000666Horizontal nystagmus1ATP13A2 CL E G H23400513436ORPHA14430213610513
HP:0000666HP:0000666Horizontal nystagmus1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM1420914609762
HP:0000666HP:0000666Horizontal nystagmus1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM1121394604065
HP:0000666HP:0000666Horizontal nystagmus1CWF19L1 CL E G H55280453521ORPHA1525613616120
HP:0000666HP:0000666Horizontal nystagmus1DAB1 CL E G H1600363710ORPHA122661603448
HP:0000666HP:0000666Horizontal nystagmus1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM1202973603850
HP:0000666HP:0000666Horizontal nystagmus1FRMD7 CL E G H90167310700Infantile nystagmus, X-linked310700C1839580OMIM1958079300628
HP:0000666HP:0000666Horizontal nystagmus1GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM14944177606463
HP:0000666HP:0000666Horizontal nystagmus1GPR143 CL E G H4935300814Nystagmus 6, congenital, X-linked300814C3151752OMIM118120145300808
HP:0000666HP:0000666Horizontal nystagmus1GRID2 CL E G H2895363432ORPHA1214576602368
HP:0000666HP:0000666Horizontal nystagmus1GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM1204593604473
HP:0000666HP:0000666Horizontal nystagmus1HARS CL E G H3035614504Usher syndrome, type 3B614504C3281066OMIM1134816142810
HP:0000666HP:0000666Horizontal nystagmus1HPS3 CL E G H84343614072Hermansky-Pudlak syndrome 3614072C3888001OMIM11715597606118
HP:0000666HP:0000666Horizontal nystagmus1HPS4 CL E G H89781614073Hermansky-Pudlak syndrome 4614073C3484357OMIM12315844606682
HP:0000666HP:0000666Horizontal nystagmus1HPS5 CL E G H11234614074Hermansky-Pudlak syndrome 5614074C3888004OMIM13117022607521
HP:0000666HP:0000666Horizontal nystagmus1KCNV2 CL E G H169522610356Retinal cone dystrophy 3B610356C1835897OMIM19419698607604
HP:0000666HP:0000666Horizontal nystagmus1KIF1C CL E G H10749397946ORPHA1176317603060
HP:0000666HP:0000666Horizontal nystagmus1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM1176317603060
HP:0000666HP:0000666Horizontal nystagmus1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM1286511603590
HP:0000666HP:0000666Horizontal nystagmus1MARS2 CL E G H92935314603ORPHA1625133609728
HP:0000666HP:0000666Horizontal nystagmus1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM1625133609728
HP:0000666HP:0000666Horizontal nystagmus1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM13948140605290
HP:0000666HP:0000666Horizontal nystagmus1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM15830348614366
HP:0000666HP:0000666Horizontal nystagmus1SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM11110892606326
HP:0000666HP:0000666Horizontal nystagmus1SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM1130587608241
HP:0000666HP:0000666Horizontal nystagmus1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM112811474185620
HP:0000666HP:0000666Horizontal nystagmus1TPP1 CL E G H1200284324ORPHA11152073607998
HP:0000666HP:0000666Horizontal nystagmus1TTBK2 CL E G H14605798767ORPHA11119141611695
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000666HP:0000666Horizontal nystagmus0ALDH18A1 CL E G H5832447753ORPHA0339722138250
HP:0000666HP:0000666Horizontal nystagmus0ANO10 CL E G H55129284289ORPHA01925519613726
HP:0000666HP:0000666Horizontal nystagmus0DPP6 CL E G H18042514ORPHA0113010126141
HP:0000666HP:0000666Horizontal nystagmus0GCH1 CL E G H264398808ORPHA02524193600225
HP:0000666HP:0000666Horizontal nystagmus0OPA1 CL E G H4976165500Dominant hereditary optic atrophy165500C0338508OMIM03948140605290
HP:0000666HP:0000666Horizontal nystagmus0SPTBN2 CL E G H6712352403ORPHA02911276604985
HP:0000666HP:0000666Horizontal nystagmus0STUB1 CL E G H10273412057ORPHA03111427607207
HP:0000666HP:0000666Horizontal nystagmus0TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM0125382612988
HP:0000666HP:0000666Horizontal nystagmus1ALDH18A1 CL E G H5832447753ORPHA0339722138250
HP:0000666HP:0000666Horizontal nystagmus1ANO10 CL E G H55129284289ORPHA01925519613726
HP:0000666HP:0000666Horizontal nystagmus1DPP6 CL E G H18042514ORPHA0113010126141
HP:0000666HP:0000666Horizontal nystagmus1GCH1 CL E G H264398808ORPHA02524193600225
HP:0000666HP:0000666Horizontal nystagmus1OPA1 CL E G H4976165500Dominant hereditary optic atrophy165500C0338508OMIM03948140605290
HP:0000666HP:0000666Horizontal nystagmus1SPTBN2 CL E G H6712352403ORPHA02911276604985
HP:0000666HP:0000666Horizontal nystagmus1STUB1 CL E G H10273412057ORPHA03111427607207
HP:0000666HP:0000666Horizontal nystagmus1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM0125382612988


Genes (46) :ADAR ALDH18A1 ALG13 ANO10 ATP13A2 ATP6 BEAN1 BLOC1S3 CACNA1A CACNA1G CNGB3 CWF19L1 DAB1 DNM1L DPP6 FRMD7 GBA GCH1 GPR143 GRID2 GRM1 HARS HPS3 HPS4 HPS5 ITPR1 KCND3 KCNV2 KIF1C LARGE1 LRP5 MARS2 NUP62 OPA1 POLR3B SACS SIX6 SNIP1 SPTBN2 STUB1 SURF1 SYT14 TMEM126A TPP1 TTBK2 UROC1

Diseases (49) :447753 300884 284289 513436 614077 616795 453521 363710 614388 2514 310700 231005 98808 300814 363432 614831 614504 614072 614073 614074 610356 397946 611302 608840 314603 611390 125250 165500 614381 212550 614501 352403 412057 616684 612989 284324 98767 225154 117210 98758 458803 262300 324262 606658 607346 601813 98 284271 210128
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.