Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal eye physiology (HP:0012373)help
Parent Node:
expand
Abnormality of vision (HP:0000504)help
..Starting node
..expand
Abnormality of binocular vision (HP:0011514)help
Term ID: 11514
Name: Abnormality of binocular vision
Synonym:
Definition: An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth.
Comments:
Reference: HP:0011514
Genes and Diseases:
 
       Child Nodes:
........expandDiplopia (HP:0000651) help
........expandAbnormal stereopsis (HP:0011515) help

 Sister Nodes: 
..expandAmaurosis fugax (HP:0100576) help
..expandBlurred vision (HP:0000622) help
..expandBradyopsia (HP:0030511) help
..expandColor vision defect (HP:0000551) help
..expandDifficulty adjusting to changes in luminance (HP:0030512) help
..expandHemeralopia (HP:0012047) help
..expandMetamorphopsia (HP:0012508) help
..expandNyctalopia (HP:0000662) help
..expandPhotophobia (HP:0000613) help
..expandPhotopsia (HP:0030786) help
..expandPoor visual behavior for age (HP:0025152) help
..expandReduced visual acuity (HP:0007663) help
..expandVisual field defect (HP:0001123) help
..expandVisual impairment (HP:0000505) help
..expandVisual loss (HP:0000572) help
..expandVitreous floaters (HP:0100832) 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:0011514HP:0011514Abnormality of binocular vision0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0011514HP:0011514Abnormality of binocular vision0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromes127
HP:0011514HP:0011514Abnormality of binocular vision0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0011514HP:0011514Abnormality of binocular vision0AIP CL E G H9049358ORPHA:2965Prolactinoma95
HP:0011514HP:0011514Abnormality of binocular vision0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromes1
HP:0011514HP:0011514Abnormality of binocular vision0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxia64
HP:0011514HP:0011514Abnormality of binocular vision0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraine239
HP:0011514HP:0011514Abnormality of binocular vision0ATP1A2 CL E G H477800OMIM:602481Migraine, familial hemiplegic, 2239
HP:0011514HP:0011514Abnormality of binocular vision0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0011514HP:0011514Abnormality of binocular vision0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 114
HP:0011514HP:0011514Abnormality of binocular vision0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 214
HP:0011514HP:0011514Abnormality of binocular vision0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 314
HP:0011514HP:0011514Abnormality of binocular vision0CACNA1A CL E G H7731388OMIM:108500Episodic ataxia, type 2449
HP:0011514HP:0011514Abnormality of binocular vision0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraine449
HP:0011514HP:0011514Abnormality of binocular vision0CACNA1A CL E G H7731388ORPHA:97Familial paroxysmal ataxia449
HP:0011514HP:0011514Abnormality of binocular vision0CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6449
HP:0011514HP:0011514Abnormality of binocular vision0CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 4232
HP:0011514HP:0011514Abnormality of binocular vision0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 4232
HP:0011514HP:0011514Abnormality of binocular vision0CDH23 CL E G H6407213733ORPHA:2965Prolactinoma636
HP:0011514HP:0011514Abnormality of binocular vision0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenoma636
HP:0011514HP:0011514Abnormality of binocular vision0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0011514HP:0011514Abnormality of binocular vision0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromes74
HP:0011514HP:0011514Abnormality of binocular vision0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromes53
HP:0011514HP:0011514Abnormality of binocular vision0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromes88
HP:0011514HP:0011514Abnormality of binocular vision0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromes139
HP:0011514HP:0011514Abnormality of binocular vision0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromes6
HP:0011514HP:0011514Abnormality of binocular vision0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0011514HP:0011514Abnormality of binocular vision0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome60
HP:0011514HP:0011514Abnormality of binocular vision0DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type I
HP:0011514HP:0011514Abnormality of binocular vision0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0011514HP:0011514Abnormality of binocular vision0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson disease6
HP:0011514HP:0011514Abnormality of binocular vision0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromes91
HP:0011514HP:0011514Abnormality of binocular vision0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0011514HP:0011514Abnormality of binocular vision0ERCC2 CL E G H20683434ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex106
HP:0011514HP:0011514Abnormality of binocular vision0ERCC3 CL E G H20713435ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex54
HP:0011514HP:0011514Abnormality of binocular vision0ERCC4 CL E G H20723436ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex158
HP:0011514HP:0011514Abnormality of binocular vision0ERCC5 CL E G H20733437ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex83
HP:0011514HP:0011514Abnormality of binocular vision0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0011514HP:0011514Abnormality of binocular vision0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0011514HP:0011514Abnormality of binocular vision0GRK1 CL E G H601110013ORPHA:75382Oguchi disease4
HP:0011514HP:0011514Abnormality of binocular vision0HLA-B CL E G H31064932ORPHA:397Giant cell arteritis4
HP:0011514HP:0011514Abnormality of binocular vision0HLA-DQB1 CL E G H31194944OMIM:126200Multiple sclerosis, susceptibility to
HP:0011514HP:0011514Abnormality of binocular vision0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritis2
HP:0011514HP:0011514Abnormality of binocular vision0HLA-DRB1 CL E G H31234948OMIM:126200Multiple sclerosis, susceptibility to2
HP:0011514HP:0011514Abnormality of binocular vision0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson disease39
HP:0011514HP:0011514Abnormality of binocular vision0KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1145
HP:0011514HP:0011514Abnormality of binocular vision0KCND3 CL E G H37526239ORPHA:98772Spinocerebellar ataxia type 19/2235
HP:0011514HP:0011514Abnormality of binocular vision0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromes124
HP:0011514HP:0011514Abnormality of binocular vision0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0011514HP:0011514Abnormality of binocular vision0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson disease221
HP:0011514HP:0011514Abnormality of binocular vision0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1140
HP:0011514HP:0011514Abnormality of binocular vision0MEN1 CL E G H42217010ORPHA:2965Prolactinoma462
HP:0011514HP:0011514Abnormality of binocular vision0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromes72
HP:0011514HP:0011514Abnormality of binocular vision0MYO5A CL E G H46447602ORPHA:79476Griscelli syndrome type 135
HP:0011514HP:0011514Abnormality of binocular vision0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0011514HP:0011514Abnormality of binocular vision0NAB2 CL E G H46657627ORPHA:2126Solitary fibrous tumor/hemangiopericytoma
HP:0011514HP:0011514Abnormality of binocular vision0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2220
HP:0011514HP:0011514Abnormality of binocular vision0NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndrome11
HP:0011514HP:0011514Abnormality of binocular vision0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 369
HP:0011514HP:0011514Abnormality of binocular vision0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritis3
HP:0011514HP:0011514Abnormality of binocular vision0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson disease23
HP:0011514HP:0011514Abnormality of binocular vision0PDCD1 CL E G H51338760OMIM:126200Multiple sclerosis, susceptibility to1
HP:0011514HP:0011514Abnormality of binocular vision0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson disease55
HP:0011514HP:0011514Abnormality of binocular vision0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson disease6
HP:0011514HP:0011514Abnormality of binocular vision0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type)464
HP:0011514HP:0011514Abnormality of binocular vision0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1464
HP:0011514HP:0011514Abnormality of binocular vision0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0011514HP:0011514Abnormality of binocular vision0PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson disease138
HP:0011514HP:0011514Abnormality of binocular vision0PRNP CL E G H56219449OMIM:600072Fatal familial insomnia69
HP:0011514HP:0011514Abnormality of binocular vision0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraine94
HP:0011514HP:0011514Abnormality of binocular vision0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritis3
HP:0011514HP:0011514Abnormality of binocular vision0PUM1 CL E G H969814957OMIM:617931Spinocerebellar ataxia 471
HP:0011514HP:0011514Abnormality of binocular vision0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromes73
HP:0011514HP:0011514Abnormality of binocular vision0RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0011514HP:0011514Abnormality of binocular vision0SAG CL E G H629510521ORPHA:75382Oguchi disease32
HP:0011514HP:0011514Abnormality of binocular vision0SAMD9L CL E G H2192851349OMIM:619806SPINOCEREBELLAR ATAXIA 49; SCA494
HP:0011514HP:0011514Abnormality of binocular vision0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraine1053
HP:0011514HP:0011514Abnormality of binocular vision0SCN4A CL E G H632910591ORPHA:99734Myotonia fluctuans263
HP:0011514HP:0011514Abnormality of binocular vision0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromes263
HP:0011514HP:0011514Abnormality of binocular vision0SDHA CL E G H638910680OMIM:619259NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA304
HP:0011514HP:0011514Abnormality of binocular vision0SERPINI1 CL E G H52748943OMIM:604218Encephalopathy, familial, with neuroserpin inclusion bodies28
HP:0011514HP:0011514Abnormality of binocular vision0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0011514HP:0011514Abnormality of binocular vision0SLC1A3 CL E G H650710941ORPHA:209967Episodic ataxia type 663
HP:0011514HP:0011514Abnormality of binocular vision0SLC1A3 CL E G H650710941OMIM:612656Episodic ataxia, type 663
HP:0011514HP:0011514Abnormality of binocular vision0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0011514HP:0011514Abnormality of binocular vision0SLC2A1 CL E G H651311005OMIM:601042Dystonia 9255
HP:0011514HP:0011514Abnormality of binocular vision0SLC2A1 CL E G H651311005ORPHA:53583Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity255
HP:0011514HP:0011514Abnormality of binocular vision0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0011514HP:0011514Abnormality of binocular vision0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0011514HP:0011514Abnormality of binocular vision0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson disease65
HP:0011514HP:0011514Abnormality of binocular vision0SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson disease65
HP:0011514HP:0011514Abnormality of binocular vision0SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxia126
HP:0011514HP:0011514Abnormality of binocular vision0STAT6 CL E G H677811368ORPHA:2126Solitary fibrous tumor/hemangiopericytoma1
HP:0011514HP:0011514Abnormality of binocular vision0SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson disease9
HP:0011514HP:0011514Abnormality of binocular vision0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0011514HP:0011514Abnormality of binocular vision0TGFB1 CL E G H704011766OMIM:131300Camurati-Engelmann disease13
HP:0011514HP:0011514Abnormality of binocular vision0TMEM240 CL E G H33945325186ORPHA:98773Spinocerebellar ataxia type 219
HP:0011514HP:0011514Abnormality of binocular vision0TOP3A CL E G H715611992OMIM:618098Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0011514HP:0011514Abnormality of binocular vision0TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia203
HP:0011514HP:0011514Abnormality of binocular vision0TPP1 CL E G H12002073OMIM:609270Spinocerebellar ataxia, autosomal recessive 7203
HP:0011514HP:0011514Abnormality of binocular vision0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type)138
HP:0011514HP:0011514Abnormality of binocular vision0UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson disease21
HP:0011514HP:0011514Abnormality of binocular vision0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0011514HP:0011514Abnormality of binocular vision0VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson disease8
HP:0011514HP:0011514Abnormality of binocular vision0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson disease37
HP:0011514HP:0011515Abnormal stereopsis1 CL E G H
HP:0011514HP:0000651Diplopia1ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0011514HP:0000651Diplopia1AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0011514HP:0000651Diplopia1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare127
HP:0011514HP:0000651Diplopia1AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040283 - Occasional95
HP:0011514HP:0000651Diplopia1AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional1
HP:0011514HP:0000651Diplopia1ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040283 - Occasional64
HP:0011514HP:0000651Diplopia1ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent239
HP:0011514HP:0000651Diplopia1ATP1A2 CL E G H477800OMIM:602481Migraine, familial hemiplegic, 2.239
HP:0011514HP:0000651Diplopia1ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0011514HP:0000651Diplopia1ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040282 - Frequent14
HP:0011514HP:0000651Diplopia1ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040282 - Frequent14
HP:0011514HP:0000651Diplopia1ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0011514HP:0000651Diplopia1CACNA1A CL E G H7731388OMIM:108500Episodic ataxia, type 2.449
HP:0011514HP:0000651Diplopia1CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent449
HP:0011514HP:0000651Diplopia1CACNA1A CL E G H7731388ORPHA:97Familial paroxysmal ataxiaHP:0040282 - Frequent449
HP:0011514HP:0000651Diplopia1CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6HP:0040282 - Frequent449
HP:0011514HP:0000651Diplopia1CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 4232
HP:0011514HP:0000651Diplopia1CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 42HP:0040283 - Occasional32
HP:0011514HP:0000651Diplopia1CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040283 - Occasional636
HP:0011514HP:0000651Diplopia1CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040283 - Occasional636
HP:0011514HP:0000651Diplopia1CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare65
HP:0011514HP:0000651Diplopia1CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional74
HP:0011514HP:0000651Diplopia1CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional53
HP:0011514HP:0000651Diplopia1CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional88
HP:0011514HP:0000651Diplopia1CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional139
HP:0011514HP:0000651Diplopia1COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0011514HP:0000651Diplopia1COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare6
HP:0011514HP:0000651Diplopia1DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040284 - Very rare60
HP:0011514HP:0000651Diplopia1DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type IHP:0040283 - Occasional
HP:0011514HP:0000651Diplopia1DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0011514HP:0000651Diplopia1DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare6
HP:0011514HP:0000651Diplopia1DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional91
HP:0011514HP:0000651Diplopia1EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0011514HP:0000651Diplopia1ERCC2 CL E G H20683434ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent106
HP:0011514HP:0000651Diplopia1ERCC3 CL E G H20713435ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent54
HP:0011514HP:0000651Diplopia1ERCC4 CL E G H20723436ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent158
HP:0011514HP:0000651Diplopia1ERCC5 CL E G H20733437ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent83
HP:0011514HP:0000651Diplopia1GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent
HP:0011514HP:0000651Diplopia1GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent8
HP:0011514HP:0000651Diplopia1GRK1 CL E G H601110013ORPHA:75382Oguchi diseaseHP:0040284 - Very rare4
HP:0011514HP:0000651Diplopia1HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040283 - Occasional4
HP:0011514HP:0000651Diplopia1HLA-DQB1 CL E G H31194944OMIM:126200Multiple sclerosis, susceptibility to.
HP:0011514HP:0000651Diplopia1HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040283 - Occasional2
HP:0011514HP:0000651Diplopia1HLA-DRB1 CL E G H31234948OMIM:126200Multiple sclerosis, susceptibility to.2
HP:0011514HP:0000651Diplopia1HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare39
HP:0011514HP:0000651Diplopia1KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1HP:0040282 - Frequent145
HP:0011514HP:0000651Diplopia1KCND3 CL E G H37526239ORPHA:98772Spinocerebellar ataxia type 19/22HP:0040283 - Occasional35
HP:0011514HP:0000651Diplopia1LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional124
HP:0011514HP:0000651Diplopia1LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent221
HP:0011514HP:0000651Diplopia1LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare221
HP:0011514HP:0000651Diplopia1MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140
HP:0011514HP:0000651Diplopia1MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040283 - Occasional462
HP:0011514HP:0000651Diplopia1MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional72
HP:0011514HP:0000651Diplopia1MYO5A CL E G H46447602ORPHA:79476Griscelli syndrome type 1HP:0040281 - Very frequent35
HP:0011514HP:0000651Diplopia1MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare
HP:0011514HP:0000651Diplopia1NAB2 CL E G H46657627ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare
HP:0011514HP:0000651Diplopia1NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040283 - Occasional220
HP:0011514HP:0000651Diplopia1NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndromeHP:0040283 - Occasional11
HP:0011514HP:0000651Diplopia1NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040284 - Very rare9
HP:0011514HP:0000651Diplopia1P4HA2 CL E G H89748547ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0011514HP:0000651Diplopia1PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare23
HP:0011514HP:0000651Diplopia1PDCD1 CL E G H51338760OMIM:126200Multiple sclerosis, susceptibility to.1
HP:0011514HP:0000651Diplopia1PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare55
HP:0011514HP:0000651Diplopia1PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare6
HP:0011514HP:0000651Diplopia1POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type)464
HP:0011514HP:0000651Diplopia1POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1464
HP:0011514HP:0000651Diplopia1POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0011514HP:0000651Diplopia1PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare138
HP:0011514HP:0000651Diplopia1PRNP CL E G H56219449OMIM:600072Fatal familial insomnia.69
HP:0011514HP:0000651Diplopia1PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent94
HP:0011514HP:0000651Diplopia1PTPN22 CL E G H261919652ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0011514HP:0000651Diplopia1PUM1 CL E G H969814957OMIM:617931Spinocerebellar ataxia 47HP:0040284 - Very rare1
HP:0011514HP:0000651Diplopia1RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional73
HP:0011514HP:0000651Diplopia1RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0011514HP:0000651Diplopia1SAG CL E G H629510521ORPHA:75382Oguchi diseaseHP:0040284 - Very rare32
HP:0011514HP:0000651Diplopia1SAMD9L CL E G H2192851349OMIM:619806SPINOCEREBELLAR ATAXIA 49; SCA494
HP:0011514HP:0000651Diplopia1SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent1053
HP:0011514HP:0000651Diplopia1SCN4A CL E G H632910591ORPHA:99734Myotonia fluctuansHP:0040283 - Occasional263
HP:0011514HP:0000651Diplopia1SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional263
HP:0011514HP:0000651Diplopia1SDHA CL E G H638910680OMIM:619259NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA304
HP:0011514HP:0000651Diplopia1SERPINI1 CL E G H52748943OMIM:604218Encephalopathy, familial, with neuroserpin inclusion bodies.28
HP:0011514HP:0000651Diplopia1SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0011514HP:0000651Diplopia1SLC1A3 CL E G H650710941ORPHA:209967Episodic ataxia type 6HP:0040283 - Occasional63
HP:0011514HP:0000651Diplopia1SLC1A3 CL E G H650710941OMIM:612656Episodic ataxia, type 6.63
HP:0011514HP:0000651Diplopia1SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare28
HP:0011514HP:0000651Diplopia1SLC2A1 CL E G H651311005OMIM:601042Dystonia 9.255
HP:0011514HP:0000651Diplopia1SLC2A1 CL E G H651311005ORPHA:53583Paroxysmal dystonic choreathetosis with episodic ataxia and spasticityHP:0040282 - Frequent255
HP:0011514HP:0000651Diplopia1SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare9
HP:0011514HP:0000651Diplopia1SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0011514HP:0000651Diplopia1SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent65
HP:0011514HP:0000651Diplopia1SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare65
HP:0011514HP:0000651Diplopia1SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxiaHP:0040283 - Occasional126
HP:0011514HP:0000651Diplopia1STAT6 CL E G H677811368ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare1
HP:0011514HP:0000651Diplopia1SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare9
HP:0011514HP:0000651Diplopia1SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare4
HP:0011514HP:0000651Diplopia1TGFB1 CL E G H704011766OMIM:131300Camurati-Engelmann disease13
HP:0011514HP:0000651Diplopia1TMEM240 CL E G H33945325186ORPHA:98773Spinocerebellar ataxia type 21HP:0040283 - Occasional9
HP:0011514HP:0000651Diplopia1TOP3A CL E G H715611992OMIM:618098Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5.
HP:0011514HP:0000651Diplopia1TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaHP:0040282 - Frequent203
HP:0011514HP:0000651Diplopia1TPP1 CL E G H12002073OMIM:609270Spinocerebellar ataxia, autosomal recessive 7.203
HP:0011514HP:0000651Diplopia1TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type)138
HP:0011514HP:0000651Diplopia1UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare21
HP:0011514HP:0000651Diplopia1VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0011514HP:0000651Diplopia1VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson diseaseHP:0040284 - Very rare8
HP:0011514HP:0000651Diplopia1VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent37


Genes (85) :ADPRS AGRN AIP AK9 ANO10 ATP1A2 ATXN3 CACNA1A CACNA1G CDH23 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DARS2 DKK1 DNAJC13 DNAJC6 DOK7 EIF4G1 ERCC2 ERCC3 ERCC4 ERCC5 GBA1 GIGYF2 GRK1 HLA-B HLA-DQB1 HLA-DRB1 HTRA2 KCNA1 KCND3 LRP4 LRRK2 MAPT MEN1 MUSK MYO5A MYO9A NAB2 NF2 NFKB2 NOP56 P4HA2 PARK7 PDCD1 PINK1 PODXL POLG PRKN PRNP PRRT2 PTPN22 PUM1 RAPSN RILPL1 SAG SAMD9L SCN1A SCN4A SDHA SERPINI1 SLC18A3 SLC1A3 SLC25A1 SLC2A1 SLC5A7 SNAP25 SNCA SPTBN2 STAT6 SYNJ1 SYT2 TGFB1 TMEM240 TOP3A TPP1 TYMP UCHL1 VAMP1 VPS13C VPS35

Diseases (53) :OMIM:618170 ORPHA:98913 ORPHA:98914 ORPHA:2965 ORPHA:284289 ORPHA:569 OMIM:602481 OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 OMIM:108500 ORPHA:97 ORPHA:98758 OMIM:616795 ORPHA:458803 ORPHA:91347 ORPHA:137898 ORPHA:268882 ORPHA:411602 ORPHA:2828 ORPHA:220295 ORPHA:75382 ORPHA:397 OMIM:126200 ORPHA:37612 ORPHA:98772 OMIM:601104 ORPHA:79476 ORPHA:2126 ORPHA:637 ORPHA:293978 ORPHA:276198 OMIM:603041 OMIM:157640 OMIM:258450 OMIM:600072 OMIM:617931 OMIM:619790 OMIM:619806 ORPHA:99734 OMIM:619259 OMIM:604218 ORPHA:209967 OMIM:612656 OMIM:601042 ORPHA:53583 ORPHA:352403 OMIM:131300 ORPHA:98773 OMIM:618098 ORPHA:284324 OMIM:609270
 

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