Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal eye physiology (HP:0012373)help
Parent Node:
expand
Abnormality of vision (HP:0000504)help
..Starting node
..expand
Visual field defect (HP:0001123)help
Term ID: 1123
Name: Visual field defect
Synonym: Partial loss of field of vision; Visual field defects
Definition:
Comments:
Reference: HP:0001123
Genes and Diseases:
 
       Child Nodes:
........expandScotoma (HP:0000575) help
................... HP:0000576 Centrocecal scotoma
................... HP:0000603 Central scotoma
................... HP:0007761 Pericentral scotoma
................... HP:0010822 Scintillating scotoma
................... HP:0030528 Paracentral scotoma
................... HP:0030529 Ring scotoma
................... HP:0030530 Arcuate scotoma
........expandLarge central visual field defect (HP:0001129) help
........expandConstriction of peripheral visual field (HP:0001133) help
................... HP:0007994 Peripheral visual field loss
................... HP:0030522 Peripheral visual field constriction with >50 degrees central field preserved
................... HP:0030523 Peripheral visual field constriction with 40-50 degrees central field preserved
................... HP:0030524 Peripheral visual field constriction with 30-40 degrees central field preserved
................... HP:0030525 Peripheral visual field constriction with 20-30 degrees central field preserved
................... HP:0030526 Peripheral visual field constriction with 10-20 degrees central field preserved
................... HP:0030527 Peripheral visual field constriction with <10 degrees central field preserved
........expandGlaucomatous visual field defect (HP:0007854) help
........expandProgressive visual field defects (HP:0007987) help
........expandHemianopia (HP:0012377) help
................... HP:0030516 Homonymous hemianopia
................... HP:0030517 Heteronymous hemianopia
........expandAltitudinal visual field defect (HP:0030531) help
........expandAbnormal visual field test (HP:0030588) help
................... HP:0030589 Abnormal confrontational visual field test
................... HP:0030590 Abnormal Amsler grid test
................... HP:0030591 Abnormal kinetic perimetry test
................... HP:0030592 Abnormal static perimetry test
........expandBlind-spot enlargment (HP:0030644) help

 Sister Nodes: 
..expandAbnormality of binocular vision (HP:0011514) help
..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 impairment (HP:0000505) help
..expandVisual loss (HP:0000572) help
..expandVitreous floaters (HP:0100832) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001123HP:0001123Visual field defect0ADA2 CL E G H51816820ORPHA1553091839607575
HP:0001123HP:0001123Visual field defect0ANGPTL6 CL E G H83854231160ORPHA141223140609336
HP:0001123HP:0001123Visual field defect0ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM1737617090616432
HP:0001123HP:0001123Visual field defect0BEST1 CL E G H743999000ORPHA131949212703607854
HP:0001123HP:0001123Visual field defect0CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM13923912605606397
HP:0001123HP:0001123Visual field defect0COL3A1 CL E G H1281231160ORPHA164519102201120180
HP:0001123HP:0001123Visual field defect0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM11147842202120130
HP:0001123HP:0001123Visual field defect0ENG CL E G H2022231160ORPHA14978833349131195
HP:0001123HP:0001123Visual field defect0FGFR3 CL E G H226135098ORPHA1775083690134934
HP:0001123HP:0001123Visual field defect0FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM1661303951606829
HP:0001123HP:0001123Visual field defect0IBA57 CL E G H200205468661ORPHA12313827302615316
HP:0001123HP:0001123Visual field defect0IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM12313827302615316
HP:0001123HP:0001123Visual field defect0IMPG1 CL E G H361799000ORPHA1112696055602870
HP:0001123HP:0001123Visual field defect0IMPG2 CL E G H5093999000ORPHA14249318362607056
HP:0001123HP:0001123Visual field defect0MAK CL E G H4117614181Retinitis pigmentosa 62614181C3280042OMIM1242416816154235
HP:0001123HP:0001123Visual field defect0MMP19 CL E G H4327611543Cavitary optic disc anomalies611543C1969063OMIM14207165601807
HP:0001123HP:0001123Visual field defect0NR2F1 CL E G H7025615722Bosch-Boonstra-Schaaf optic atrophy syndrome615722C3810363OMIM1341597975132890
HP:0001123HP:0001123Visual field defect0PRPH2 CL E G H596199000ORPHA11815259942179605
HP:0001123HP:0001123Visual field defect0RHO CL E G H6010610445Congenital stationary night blindness, autosomal dominant 1610445C1864869OMIM121936610012180380
HP:0001123HP:0001123Visual field defect0RHO CL E G H6010613731Retinitis pigmentosa 4613731C3151001OMIM121936610012180380
HP:0001123HP:0001123Visual field defect0SLC7A14 CL E G H57709615725Retinitis pigmentosa 68615725C3810380OMIM1821629326615720
HP:0001123HP:0001123Visual field defect0TCF12 CL E G H693835098ORPHA17116611623600480
HP:0001123HP:0001123Visual field defect0TGFBR3 CL E G H7049231160ORPHA173311774600742
HP:0001123HP:0001123Visual field defect0TOPORS CL E G H10210609923Retinitis pigmentosa 31609923C1835923OMIM12230821653609507
HP:0001123HP:0001123Visual field defect0TWIST1 CL E G H729135098ORPHA120913712428601622
HP:0001123HP:0001123Visual field defect0USH2A CL E G H7399613809Retinitis pigmentosa 39613809C3151138OMIM11234402412601608400
HP:0001123HP:0001123Visual field defect0VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM1247782464118661
HP:0001123HP:0001123Visual field defect0ZIC1 CL E G H754535098ORPHA195112872600470
HP:0001123HP:0001123Visual field defect1ADA2 CL E G H51816820ORPHA1553091839607575
HP:0001123HP:0001123Visual field defect1ANGPTL6 CL E G H83854231160ORPHA141223140609336
HP:0001123HP:0001123Visual field defect1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM1737617090616432
HP:0001123HP:0001123Visual field defect1BEST1 CL E G H743999000ORPHA131949212703607854
HP:0001123HP:0001123Visual field defect1CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM13923912605606397
HP:0001123HP:0001123Visual field defect1COL3A1 CL E G H1281231160ORPHA164519102201120180
HP:0001123HP:0001123Visual field defect1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM11147842202120130
HP:0001123HP:0001123Visual field defect1ENG CL E G H2022231160ORPHA14978833349131195
HP:0001123HP:0001123Visual field defect1FGFR3 CL E G H226135098ORPHA1775083690134934
HP:0001123HP:0001123Visual field defect1FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM1661303951606829
HP:0001123HP:0001123Visual field defect1IBA57 CL E G H200205468661ORPHA12313827302615316
HP:0001123HP:0001123Visual field defect1IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM12313827302615316
HP:0001123HP:0001123Visual field defect1IMPG1 CL E G H361799000ORPHA1112696055602870
HP:0001123HP:0001123Visual field defect1IMPG2 CL E G H5093999000ORPHA14249318362607056
HP:0001123HP:0001123Visual field defect1MAK CL E G H4117614181Retinitis pigmentosa 62614181C3280042OMIM1242416816154235
HP:0001123HP:0001123Visual field defect1MMP19 CL E G H4327611543Cavitary optic disc anomalies611543C1969063OMIM14207165601807
HP:0001123HP:0001123Visual field defect1NR2F1 CL E G H7025615722Bosch-Boonstra-Schaaf optic atrophy syndrome615722C3810363OMIM1341597975132890
HP:0001123HP:0001123Visual field defect1PRPH2 CL E G H596199000ORPHA11815259942179605
HP:0001123HP:0001123Visual field defect1RHO CL E G H6010610445Congenital stationary night blindness, autosomal dominant 1610445C1864869OMIM121936610012180380
HP:0001123HP:0001123Visual field defect1RHO CL E G H6010613731Retinitis pigmentosa 4613731C3151001OMIM121936610012180380
HP:0001123HP:0001123Visual field defect1SLC7A14 CL E G H57709615725Retinitis pigmentosa 68615725C3810380OMIM1821629326615720
HP:0001123HP:0001123Visual field defect1TCF12 CL E G H693835098ORPHA17116611623600480
HP:0001123HP:0001123Visual field defect1TGFBR3 CL E G H7049231160ORPHA173311774600742
HP:0001123HP:0001123Visual field defect1TOPORS CL E G H10210609923Retinitis pigmentosa 31609923C1835923OMIM12230821653609507
HP:0001123HP:0001123Visual field defect1TWIST1 CL E G H729135098ORPHA120913712428601622
HP:0001123HP:0001123Visual field defect1USH2A CL E G H7399613809Retinitis pigmentosa 39613809C3151138OMIM11234402412601608400
HP:0001123HP:0001123Visual field defect1VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM1247782464118661
HP:0001123HP:0001123Visual field defect1ZIC1 CL E G H754535098ORPHA195112872600470
HP:0001123HP:0001123Visual field defect2ADA2 CL E G H51816820ORPHA1553091839607575
HP:0001123HP:0001123Visual field defect2ANGPTL6 CL E G H83854231160ORPHA141223140609336
HP:0001123HP:0001123Visual field defect2ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM1737617090616432
HP:0001123HP:0001123Visual field defect2BEST1 CL E G H743999000ORPHA131949212703607854
HP:0001123HP:0001123Visual field defect2CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM13923912605606397
HP:0001123HP:0001123Visual field defect2COL3A1 CL E G H1281231160ORPHA164519102201120180
HP:0001123HP:0001123Visual field defect2COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM11147842202120130
HP:0001123HP:0001123Visual field defect2ENG CL E G H2022231160ORPHA14978833349131195
HP:0001123HP:0001123Visual field defect2FGFR3 CL E G H226135098ORPHA1775083690134934
HP:0001123HP:0001123Visual field defect2FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM1661303951606829
HP:0001123HP:0001123Visual field defect2IBA57 CL E G H200205468661ORPHA12313827302615316
HP:0001123HP:0001123Visual field defect2IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM12313827302615316
HP:0001123HP:0001123Visual field defect2IMPG1 CL E G H361799000ORPHA1112696055602870
HP:0001123HP:0001123Visual field defect2IMPG2 CL E G H5093999000ORPHA14249318362607056
HP:0001123HP:0001123Visual field defect2MAK CL E G H4117614181Retinitis pigmentosa 62614181C3280042OMIM1242416816154235
HP:0001123HP:0001123Visual field defect2MMP19 CL E G H4327611543Cavitary optic disc anomalies611543C1969063OMIM14207165601807
HP:0001123HP:0001123Visual field defect2NR2F1 CL E G H7025615722Bosch-Boonstra-Schaaf optic atrophy syndrome615722C3810363OMIM1341597975132890
HP:0001123HP:0001123Visual field defect2PRPH2 CL E G H596199000ORPHA11815259942179605
HP:0001123HP:0001123Visual field defect2RHO CL E G H6010610445Congenital stationary night blindness, autosomal dominant 1610445C1864869OMIM121936610012180380
HP:0001123HP:0001123Visual field defect2RHO CL E G H6010613731Retinitis pigmentosa 4613731C3151001OMIM121936610012180380
HP:0001123HP:0001123Visual field defect2SLC7A14 CL E G H57709615725Retinitis pigmentosa 68615725C3810380OMIM1821629326615720
HP:0001123HP:0001123Visual field defect2TCF12 CL E G H693835098ORPHA17116611623600480
HP:0001123HP:0001123Visual field defect2TGFBR3 CL E G H7049231160ORPHA173311774600742
HP:0001123HP:0001123Visual field defect2TOPORS CL E G H10210609923Retinitis pigmentosa 31609923C1835923OMIM12230821653609507
HP:0001123HP:0001123Visual field defect2TWIST1 CL E G H729135098ORPHA120913712428601622
HP:0001123HP:0001123Visual field defect2USH2A CL E G H7399613809Retinitis pigmentosa 39613809C3151138OMIM11234402412601608400
HP:0001123HP:0001123Visual field defect2VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM1247782464118661
HP:0001123HP:0001123Visual field defect2ZIC1 CL E G H754535098ORPHA195112872600470
HP:0001123HP:0001123Visual field defect3ADA2 CL E G H51816820ORPHA1553091839607575
HP:0001123HP:0001123Visual field defect3ANGPTL6 CL E G H83854231160ORPHA141223140609336
HP:0001123HP:0001123Visual field defect3ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM1737617090616432
HP:0001123HP:0001123Visual field defect3BEST1 CL E G H743999000ORPHA131949212703607854
HP:0001123HP:0001123Visual field defect3CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM13923912605606397
HP:0001123HP:0001123Visual field defect3COL3A1 CL E G H1281231160ORPHA164519102201120180
HP:0001123HP:0001123Visual field defect3COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM11147842202120130
HP:0001123HP:0001123Visual field defect3ENG CL E G H2022231160ORPHA14978833349131195
HP:0001123HP:0001123Visual field defect3FGFR3 CL E G H226135098ORPHA1775083690134934
HP:0001123HP:0001123Visual field defect3FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM1661303951606829
HP:0001123HP:0001123Visual field defect3IBA57 CL E G H200205468661ORPHA12313827302615316
HP:0001123HP:0001123Visual field defect3IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM12313827302615316
HP:0001123HP:0001123Visual field defect3IMPG1 CL E G H361799000ORPHA1112696055602870
HP:0001123HP:0001123Visual field defect3IMPG2 CL E G H5093999000ORPHA14249318362607056
HP:0001123HP:0001123Visual field defect3MAK CL E G H4117614181Retinitis pigmentosa 62614181C3280042OMIM1242416816154235
HP:0001123HP:0001123Visual field defect3MMP19 CL E G H4327611543Cavitary optic disc anomalies611543C1969063OMIM14207165601807
HP:0001123HP:0001123Visual field defect3NR2F1 CL E G H7025615722Bosch-Boonstra-Schaaf optic atrophy syndrome615722C3810363OMIM1341597975132890
HP:0001123HP:0001123Visual field defect3PRPH2 CL E G H596199000ORPHA11815259942179605
HP:0001123HP:0001123Visual field defect3RHO CL E G H6010610445Congenital stationary night blindness, autosomal dominant 1610445C1864869OMIM121936610012180380
HP:0001123HP:0001123Visual field defect3RHO CL E G H6010613731Retinitis pigmentosa 4613731C3151001OMIM121936610012180380
HP:0001123HP:0001123Visual field defect3SLC7A14 CL E G H57709615725Retinitis pigmentosa 68615725C3810380OMIM1821629326615720
HP:0001123HP:0001123Visual field defect3TCF12 CL E G H693835098ORPHA17116611623600480
HP:0001123HP:0001123Visual field defect3TGFBR3 CL E G H7049231160ORPHA173311774600742
HP:0001123HP:0001123Visual field defect3TOPORS CL E G H10210609923Retinitis pigmentosa 31609923C1835923OMIM12230821653609507
HP:0001123HP:0001123Visual field defect3TWIST1 CL E G H729135098ORPHA120913712428601622
HP:0001123HP:0001123Visual field defect3USH2A CL E G H7399613809Retinitis pigmentosa 39613809C3151138OMIM11234402412601608400
HP:0001123HP:0001123Visual field defect3VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM1247782464118661
HP:0001123HP:0001123Visual field defect3ZIC1 CL E G H754535098ORPHA195112872600470
HP:0001123HP:0001123Visual field defect4ADA2 CL E G H51816820ORPHA1553091839607575
HP:0001123HP:0001123Visual field defect4ANGPTL6 CL E G H83854231160ORPHA141223140609336
HP:0001123HP:0001123Visual field defect4ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM1737617090616432
HP:0001123HP:0001123Visual field defect4BEST1 CL E G H743999000ORPHA131949212703607854
HP:0001123HP:0001123Visual field defect4CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM13923912605606397
HP:0001123HP:0001123Visual field defect4COL3A1 CL E G H1281231160ORPHA164519102201120180
HP:0001123HP:0001123Visual field defect4COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM11147842202120130
HP:0001123HP:0001123Visual field defect4ENG CL E G H2022231160ORPHA14978833349131195
HP:0001123HP:0001123Visual field defect4FGFR3 CL E G H226135098ORPHA1775083690134934
HP:0001123HP:0001123Visual field defect4FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM1661303951606829
HP:0001123HP:0001123Visual field defect4IBA57 CL E G H200205468661ORPHA12313827302615316
HP:0001123HP:0001123Visual field defect4IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM12313827302615316
HP:0001123HP:0001123Visual field defect4IMPG1 CL E G H361799000ORPHA1112696055602870
HP:0001123HP:0001123Visual field defect4IMPG2 CL E G H5093999000ORPHA14249318362607056
HP:0001123HP:0001123Visual field defect4MAK CL E G H4117614181Retinitis pigmentosa 62614181C3280042OMIM1242416816154235
HP:0001123HP:0001123Visual field defect4MMP19 CL E G H4327611543Cavitary optic disc anomalies611543C1969063OMIM14207165601807
HP:0001123HP:0001123Visual field defect4NR2F1 CL E G H7025615722Bosch-Boonstra-Schaaf optic atrophy syndrome615722C3810363OMIM1341597975132890
HP:0001123HP:0001123Visual field defect4PRPH2 CL E G H596199000ORPHA11815259942179605
HP:0001123HP:0001123Visual field defect4RHO CL E G H6010610445Congenital stationary night blindness, autosomal dominant 1610445C1864869OMIM121936610012180380
HP:0001123HP:0001123Visual field defect4RHO CL E G H6010613731Retinitis pigmentosa 4613731C3151001OMIM121936610012180380
HP:0001123HP:0001123Visual field defect4SLC7A14 CL E G H57709615725Retinitis pigmentosa 68615725C3810380OMIM1821629326615720
HP:0001123HP:0001123Visual field defect4TCF12 CL E G H693835098ORPHA17116611623600480
HP:0001123HP:0001123Visual field defect4TGFBR3 CL E G H7049231160ORPHA173311774600742
HP:0001123HP:0001123Visual field defect4TOPORS CL E G H10210609923Retinitis pigmentosa 31609923C1835923OMIM12230821653609507
HP:0001123HP:0001123Visual field defect4TWIST1 CL E G H729135098ORPHA120913712428601622
HP:0001123HP:0001123Visual field defect4USH2A CL E G H7399613809Retinitis pigmentosa 39613809C3151138OMIM11234402412601608400
HP:0001123HP:0001123Visual field defect4VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM1247782464118661
HP:0001123HP:0001123Visual field defect4ZIC1 CL E G H754535098ORPHA195112872600470
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001123HP:0001123Visual field defect0BEST1 CL E G H74391243ORPHA031949212703607854
HP:0001123HP:0001123Visual field defect0BTD CL E G H68679241ORPHA02484501122609019
HP:0001123HP:0001123Visual field defect0CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM0441532020600570
HP:0001123HP:0001123Visual field defect0EPCAM CL E G H4072144ORPHA08135611529185535
HP:0001123HP:0001123Visual field defect0FAN1 CL E G H22909144ORPHA02134529170613534
HP:0001123HP:0001123Visual field defect0JAK2 CL E G H371771493ORPHA0262616192147796
HP:0001123HP:0001123Visual field defect0KRAS CL E G H3845144ORPHA0453296407190070
HP:0001123HP:0001123Visual field defect0MLH1 CL E G H4292144ORPHA0120335217127120436
HP:0001123HP:0001123Visual field defect0MLH3 CL E G H27030144ORPHA0326337128604395
HP:0001123HP:0001123Visual field defect0MPL CL E G H435271493ORPHA0573087217159530
HP:0001123HP:0001123Visual field defect0MSH2 CL E G H4436144ORPHA0126445857325609309
HP:0001123HP:0001123Visual field defect0MSH6 CL E G H2956144ORPHA060256747329600678
HP:0001123HP:0001123Visual field defect0MSX2 CL E G H4488604757Craniosynostosis 2604757C1858160OMIM0261357392123101
HP:0001123HP:0001123Visual field defect0PIK3CA CL E G H5290144ORPHA0575318975171834
HP:0001123HP:0001123Visual field defect0PMS1 CL E G H5378144ORPHA036859121600258
HP:0001123HP:0001123Visual field defect0PMS2 CL E G H5395144ORPHA036331309122600259
HP:0001123HP:0001123Visual field defect0PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA014319652600716
HP:0001123HP:0001123Visual field defect0TGFBR2 CL E G H7048144ORPHA014867211773190182
HP:0001123HP:0001123Visual field defect0THPO CL E G H706671493ORPHA01510311795600044
HP:0001123HP:0001123Visual field defect1BEST1 CL E G H74391243ORPHA031949212703607854
HP:0001123HP:0001123Visual field defect1BTD CL E G H68679241ORPHA02484501122609019
HP:0001123HP:0001123Visual field defect1CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM0441532020600570
HP:0001123HP:0001123Visual field defect1EPCAM CL E G H4072144ORPHA08135611529185535
HP:0001123HP:0001123Visual field defect1FAN1 CL E G H22909144ORPHA02134529170613534
HP:0001123HP:0001123Visual field defect1JAK2 CL E G H371771493ORPHA0262616192147796
HP:0001123HP:0001123Visual field defect1KRAS CL E G H3845144ORPHA0453296407190070
HP:0001123HP:0001123Visual field defect1MLH1 CL E G H4292144ORPHA0120335217127120436
HP:0001123HP:0001123Visual field defect1MLH3 CL E G H27030144ORPHA0326337128604395
HP:0001123HP:0001123Visual field defect1MPL CL E G H435271493ORPHA0573087217159530
HP:0001123HP:0001123Visual field defect1MSH2 CL E G H4436144ORPHA0126445857325609309
HP:0001123HP:0001123Visual field defect1MSH6 CL E G H2956144ORPHA060256747329600678
HP:0001123HP:0001123Visual field defect1MSX2 CL E G H4488604757Craniosynostosis 2604757C1858160OMIM0261357392123101
HP:0001123HP:0001123Visual field defect1PIK3CA CL E G H5290144ORPHA0575318975171834
HP:0001123HP:0001123Visual field defect1PMS1 CL E G H5378144ORPHA036859121600258
HP:0001123HP:0001123Visual field defect1PMS2 CL E G H5395144ORPHA036331309122600259
HP:0001123HP:0001123Visual field defect1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA014319652600716
HP:0001123HP:0001123Visual field defect1TGFBR2 CL E G H7048144ORPHA014867211773190182
HP:0001123HP:0001123Visual field defect1THPO CL E G H706671493ORPHA01510311795600044
HP:0001123HP:0001123Visual field defect2BEST1 CL E G H74391243ORPHA031949212703607854
HP:0001123HP:0001123Visual field defect2BTD CL E G H68679241ORPHA02484501122609019
HP:0001123HP:0001123Visual field defect2CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM0441532020600570
HP:0001123HP:0001123Visual field defect2EPCAM CL E G H4072144ORPHA08135611529185535
HP:0001123HP:0001123Visual field defect2FAN1 CL E G H22909144ORPHA02134529170613534
HP:0001123HP:0001123Visual field defect2JAK2 CL E G H371771493ORPHA0262616192147796
HP:0001123HP:0001123Visual field defect2KRAS CL E G H3845144ORPHA0453296407190070
HP:0001123HP:0001123Visual field defect2MLH1 CL E G H4292144ORPHA0120335217127120436
HP:0001123HP:0001123Visual field defect2MLH3 CL E G H27030144ORPHA0326337128604395
HP:0001123HP:0001123Visual field defect2MPL CL E G H435271493ORPHA0573087217159530
HP:0001123HP:0001123Visual field defect2MSH2 CL E G H4436144ORPHA0126445857325609309
HP:0001123HP:0001123Visual field defect2MSH6 CL E G H2956144ORPHA060256747329600678
HP:0001123HP:0001123Visual field defect2MSX2 CL E G H4488604757Craniosynostosis 2604757C1858160OMIM0261357392123101
HP:0001123HP:0001123Visual field defect2PIK3CA CL E G H5290144ORPHA0575318975171834
HP:0001123HP:0001123Visual field defect2PMS1 CL E G H5378144ORPHA036859121600258
HP:0001123HP:0001123Visual field defect2PMS2 CL E G H5395144ORPHA036331309122600259
HP:0001123HP:0001123Visual field defect2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA014319652600716
HP:0001123HP:0001123Visual field defect2TGFBR2 CL E G H7048144ORPHA014867211773190182
HP:0001123HP:0001123Visual field defect2THPO CL E G H706671493ORPHA01510311795600044
HP:0001123HP:0001123Visual field defect3BEST1 CL E G H74391243ORPHA031949212703607854
HP:0001123HP:0001123Visual field defect3BTD CL E G H68679241ORPHA02484501122609019
HP:0001123HP:0001123Visual field defect3CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM0441532020600570
HP:0001123HP:0001123Visual field defect3EPCAM CL E G H4072144ORPHA08135611529185535
HP:0001123HP:0001123Visual field defect3FAN1 CL E G H22909144ORPHA02134529170613534
HP:0001123HP:0001123Visual field defect3JAK2 CL E G H371771493ORPHA0262616192147796
HP:0001123HP:0001123Visual field defect3KRAS CL E G H3845144ORPHA0453296407190070
HP:0001123HP:0001123Visual field defect3MLH1 CL E G H4292144ORPHA0120335217127120436
HP:0001123HP:0001123Visual field defect3MLH3 CL E G H27030144ORPHA0326337128604395
HP:0001123HP:0001123Visual field defect3MPL CL E G H435271493ORPHA0573087217159530
HP:0001123HP:0001123Visual field defect3MSH2 CL E G H4436144ORPHA0126445857325609309
HP:0001123HP:0001123Visual field defect3MSH6 CL E G H2956144ORPHA060256747329600678
HP:0001123HP:0001123Visual field defect3MSX2 CL E G H4488604757Craniosynostosis 2604757C1858160OMIM0261357392123101
HP:0001123HP:0001123Visual field defect3PIK3CA CL E G H5290144ORPHA0575318975171834
HP:0001123HP:0001123Visual field defect3PMS1 CL E G H5378144ORPHA036859121600258
HP:0001123HP:0001123Visual field defect3PMS2 CL E G H5395144ORPHA036331309122600259
HP:0001123HP:0001123Visual field defect3PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA014319652600716
HP:0001123HP:0001123Visual field defect3TGFBR2 CL E G H7048144ORPHA014867211773190182
HP:0001123HP:0001123Visual field defect3THPO CL E G H706671493ORPHA01510311795600044
HP:0001123HP:0001123Visual field defect4BEST1 CL E G H74391243ORPHA031949212703607854
HP:0001123HP:0001123Visual field defect4BTD CL E G H68679241ORPHA02484501122609019
HP:0001123HP:0001123Visual field defect4CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM0441532020600570
HP:0001123HP:0001123Visual field defect4EPCAM CL E G H4072144ORPHA08135611529185535
HP:0001123HP:0001123Visual field defect4FAN1 CL E G H22909144ORPHA02134529170613534
HP:0001123HP:0001123Visual field defect4JAK2 CL E G H371771493ORPHA0262616192147796
HP:0001123HP:0001123Visual field defect4KRAS CL E G H3845144ORPHA0453296407190070
HP:0001123HP:0001123Visual field defect4MLH1 CL E G H4292144ORPHA0120335217127120436
HP:0001123HP:0001123Visual field defect4MLH3 CL E G H27030144ORPHA0326337128604395
HP:0001123HP:0001123Visual field defect4MPL CL E G H435271493ORPHA0573087217159530
HP:0001123HP:0001123Visual field defect4MSH2 CL E G H4436144ORPHA0126445857325609309
HP:0001123HP:0001123Visual field defect4MSH6 CL E G H2956144ORPHA060256747329600678
HP:0001123HP:0001123Visual field defect4MSX2 CL E G H4488604757Craniosynostosis 2604757C1858160OMIM0261357392123101
HP:0001123HP:0001123Visual field defect4PIK3CA CL E G H5290144ORPHA0575318975171834
HP:0001123HP:0001123Visual field defect4PMS1 CL E G H5378144ORPHA036859121600258
HP:0001123HP:0001123Visual field defect4PMS2 CL E G H5395144ORPHA036331309122600259
HP:0001123HP:0001123Visual field defect4PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA014319652600716
HP:0001123HP:0001123Visual field defect4TGFBR2 CL E G H7048144ORPHA014867211773190182
HP:0001123HP:0001123Visual field defect4THPO CL E G H706671493ORPHA01510311795600044


Genes (171) :ABCA4 ACO2 ADA2 ADGRV1 AGBL5 AIP AIPL1 AIRE ALMS1 ANGPTL6 ARHGEF18 ARL3 ARL6 ARSG ASB10 ATF6 ATP6 BBS2 BEST1 BRAF BTD C12ORF65 C1QTNF5 C8ORF37 CACNA1F CACNA2D4 CDH23 CEP78 CERKL CFAP410 CHM CIB2 CLCN2 CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 COL3A1 COL4A1 COX1 COX2 COX3 CRX CTNNB1 CYP4V2 CYTB DNM1L ELOVL4 ENG EPCAM EYS FAM161A FAN1 FGFR3 FLVCR1 FXN GNAQ GNAT2 GUCY2D HARS HGSNAT HK1 HLA-A IBA57 IDH3B IMPDH1 IMPG1 IMPG2 ITM2B JAK2 KCNV2 KIZ KRAS LRAT MAK MEN1 MFN2 MFSD8 MLH1 MLH3 MMP19 MPL MSH2 MSH6 MSX2 MYO7A ND1 ND2 ND4 ND4L ND5 ND6 NDUFS2 NR2F1 OPA1 OPA3 PCDH15 PCYT1A PDE6A PDE6C PDE6G PDE6H PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIK3CA PMS1 PMS2 POC1B PROM1 PRPF3 PRPF31 PRPF8 PRPH2 PTPN22 RAB28 RBP3 RGR RHO RLBP1 ROM1 RP1 RP2 RP9 RPGR RTN4IP1 SEMA4A SH3BP2 SLC7A14 SOST SPATA7 TCF12 TGFBR2 TGFBR3 THPO TIMM8A TMEM126A TOPORS TRNC TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNT1 TRNV TRNW TULP1 TWIST1 USH1C USH1G USH2A VCAN WHRN ZIC1 ZNF408 ZNF513

Diseases (112) :820 231160 617433 1243 99000 79241 615651 276902 175780 144 35098 229300 468661 616451 71493 614181 611543 604757 615722 397 610445 613731 615725 609923 613809 143200 601718 231178 268000 240300 203800 618173 231183 603383 644 616562 54595 605670 617406 610478 231169 91347 608380 303100 607595 550 540000 120970 210370 602772 606068 609033 3205 616544 617460 179 612572 180105 610356 615780 165300 85167 772 615973 601414 600138 600059 608133 615233 613769 607476 180100 312600 180104 118400 269500 604232 304700 612989 613843 600132 616469 604116 827 616289 617023 49382 616517 104 535000 615035 300476 617547 613767 610708 601777 616152 616079 601152 616170 125250 165500 67036 613810 608051 612095 615374 616732 610283 616959 613617 2965
 

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