Human Phenotype Ontology 
Grandparent Node:
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Abnormality of vision (HP:0000504)help
Parent Node:
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Visual field defect (HP:0001123)help
..Starting node
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Scotoma (HP:0000575)help
Term ID: 575
Name: Scotoma
Synonym: Blind spot
Definition: A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.
Comments:
Reference: HP:0000575
Genes and Diseases:
 
       Child Nodes:
........expandCentrocecal scotoma (HP:0000576) help
........expandCentral scotoma (HP:0000603) help
........expandPericentral scotoma (HP:0007761) help
........expandScintillating scotoma (HP:0010822) help
........expandParacentral scotoma (HP:0030528) help
........expandRing scotoma (HP:0030529) help
........expandArcuate scotoma (HP:0030530) help

 Sister Nodes: 
..expandAbnormal visual field test (HP:0030588) help
..expandAltitudinal visual field defect (HP:0030531) help
..expandBlind-spot enlargment (HP:0030644) help
..expandConstriction of peripheral visual field (HP:0001133) help
..expandGlaucomatous visual field defect (HP:0007854) help
..expandHemianopia (HP:0012377) help
..expandLarge central visual field defect (HP:0001129) help
..expandProgressive visual field defects (HP:0007987) 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:0000575HP:0000575Scotoma0ABCA4 CL E G H2434OMIM:604116CONE-ROD DYSTROPHY 3; CORD3826
HP:0000575HP:0000575Scotoma0ABCA4 CL E G H2434ORPHA:827Stargardt disease826
HP:0000575HP:0000575Scotoma0ACO2 CL E G H50118OMIM:616289Optic atrophy 960
HP:0000575HP:0000575Scotoma0ADGRV1 CL E G H8405917416ORPHA:231178Usher syndrome type 2HP:0040281 - Very frequent530
HP:0000575HP:0000575Scotoma0ARSG CL E G H2290124102ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent
HP:0000575HP:0000575Scotoma0ARSG CL E G H2290124102OMIM:618144USHER SYNDROME, TYPE IV; USH4
HP:0000575HP:0000575Scotoma0ATF6 CL E G H22926791ORPHA:49382Achromatopsia10
HP:0000575HP:0000575Scotoma0ATF6 CL E G H22926791OMIM:616517ACHROMATOPSIA 7; ACHM710
HP:0000575HP:0000575Scotoma0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent239
HP:0000575HP:0000575Scotoma0ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathy
HP:0000575HP:0000575Scotoma0ATP6 CL E G H45087414OMIM:535000Leber optic atrophy
HP:0000575HP:0000575Scotoma0BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040283 - Occasional223
HP:0000575HP:0000575Scotoma0C1QTNF5 CL E G H11490214344OMIM:605670Late-Onset retinal degeneration.20
HP:0000575HP:0000575Scotoma0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent449
HP:0000575HP:0000575Scotoma0CACNA1F CL E G H7781393OMIM:300476Cone-Rod dystrophy, X-linked, 358
HP:0000575HP:0000575Scotoma0CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent636
HP:0000575HP:0000575Scotoma0CEP78 CL E G H8413125740ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent9
HP:0000575HP:0000575Scotoma0CFAP410 CL E G H7551260OMIM:617547Retinal dystrophy with or without macular staphyloma
HP:0000575HP:0000575Scotoma0CFH CL E G H30754883ORPHA:75376Familial drusen86
HP:0000575HP:0000575Scotoma0CFI CL E G H34265394ORPHA:75376Familial drusen57
HP:0000575HP:0000575Scotoma0CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent15
HP:0000575HP:0000575Scotoma0CLRN1 CL E G H740112605ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent60
HP:0000575HP:0000575Scotoma0CNGA3 CL E G H12612150ORPHA:49382Achromatopsia82
HP:0000575HP:0000575Scotoma0CNGB3 CL E G H547142153ORPHA:49382Achromatopsia194
HP:0000575HP:0000575Scotoma0CNGB3 CL E G H547142153ORPHA:827Stargardt disease194
HP:0000575HP:0000575Scotoma0CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:0000575HP:0000575Scotoma0COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathy
HP:0000575HP:0000575Scotoma0COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathy
HP:0000575HP:0000575Scotoma0COX3 CL E G H45147422OMIM:535000Leber optic atrophy
HP:0000575HP:0000575Scotoma0CRX CL E G H14062383OMIM:120970Cone-Rod dystrophy 2158
HP:0000575HP:0000575Scotoma0CYP1B1 CL E G H15452597ORPHA:98977Juvenile glaucoma101
HP:0000575HP:0000575Scotoma0CYP4V2 CL E G H28544023198OMIM:210370Bietti crystalline corneoretinal dystrophy126
HP:0000575HP:0000575Scotoma0CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophy126
HP:0000575HP:0000575Scotoma0CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathy
HP:0000575HP:0000575Scotoma0CYTB CL E G H45197427OMIM:535000Leber optic atrophy
HP:0000575HP:0000575Scotoma0DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathy
HP:0000575HP:0000575Scotoma0DNAJC30 CL E G H8427716410OMIM:619382LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000575HP:0000575Scotoma0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic form94
HP:0000575HP:0000575Scotoma0DNM1L CL E G H100592973OMIM:610708Optic atrophy 594
HP:0000575HP:0000575Scotoma0EFEMP1 CL E G H22023218ORPHA:75376Familial drusen54
HP:0000575HP:0000575Scotoma0EFEMP1 CL E G H22023218ORPHA:98977Juvenile glaucoma54
HP:0000575HP:0000575Scotoma0ELOVL4 CL E G H678514415ORPHA:827Stargardt disease62
HP:0000575HP:0000575Scotoma0ESPN CL E G H8371513281ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent33
HP:0000575HP:0000575Scotoma0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0000575HP:0000575Scotoma0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0000575HP:0000575Scotoma0GNAT2 CL E G H27804394ORPHA:49382Achromatopsia19
HP:0000575HP:0000575Scotoma0HARS1 CL E G H30354816ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent
HP:0000575HP:0000575Scotoma0HKDC1 CL E G H8020123302OMIM:619614RETINITIS PIGMENTOSA 92; RP922
HP:0000575HP:0000575Scotoma0HLA-A CL E G H31054931ORPHA:179Birdshot chorioretinopathy4
HP:0000575HP:0000575Scotoma0IMPG2 CL E G H5093918362OMIM:616152Macular dystrophy, vitelliform, 5120
HP:0000575HP:0000575Scotoma0ITM2B CL E G H94456174OMIM:616079Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities3
HP:0000575HP:0000575Scotoma0KCNV2 CL E G H16952219698OMIM:610356Retinal cone dystrophy 3B.73
HP:0000575HP:0000575Scotoma0LOC111365204 CL E G H111365204OMIM:136550Macular dystrophy, retinal, 1, north Carolina type
HP:0000575HP:0000575Scotoma0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI203
HP:0000575HP:0000575Scotoma0MFSD8 CL E G H25647128486OMIM:616170Macular dystrophy with central cone involvement120
HP:0000575HP:0000575Scotoma0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive
HP:0000575HP:0000575Scotoma0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040283 - Occasional81
HP:0000575HP:0000575Scotoma0MYO7A CL E G H46477606ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent516
HP:0000575HP:0000575Scotoma0MYO7A CL E G H46477606ORPHA:231178Usher syndrome type 2HP:0040281 - Very frequent516
HP:0000575HP:0000575Scotoma0MYOC CL E G H46537610ORPHA:98977Juvenile glaucoma47
HP:0000575HP:0000575Scotoma0ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathy
HP:0000575HP:0000575Scotoma0ND1 CL E G H45357455OMIM:535000Leber optic atrophy
HP:0000575HP:0000575Scotoma0ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathy
HP:0000575HP:0000575Scotoma0ND2 CL E G H45367456OMIM:535000Leber optic atrophy
HP:0000575HP:0000575Scotoma0ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathy
HP:0000575HP:0000575Scotoma0ND4 CL E G H45387459OMIM:535000Leber optic atrophy
HP:0000575HP:0000575Scotoma0ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathy
HP:0000575HP:0000575Scotoma0ND4L CL E G H45397460OMIM:535000Leber optic atrophy
HP:0000575HP:0000575Scotoma0ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathy
HP:0000575HP:0000575Scotoma0ND5 CL E G H45407461OMIM:535000Leber optic atrophy
HP:0000575HP:0000575Scotoma0ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathy
HP:0000575HP:0000575Scotoma0ND6 CL E G H45417462OMIM:535000Leber optic atrophy
HP:0000575HP:0000575Scotoma0NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathy65
HP:0000575HP:0000575Scotoma0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic form214
HP:0000575HP:0000575Scotoma0OPA1 CL E G H49768140OMIM:165500Optic atrophy 1214
HP:0000575HP:0000575Scotoma0OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy214
HP:0000575HP:0000575Scotoma0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataract163
HP:0000575HP:0000575Scotoma0OPA3 CL E G H802078142OMIM:165300OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3163
HP:0000575HP:0000575Scotoma0PCDH15 CL E G H6521714674ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent352
HP:0000575HP:0000575Scotoma0PDE6C CL E G H51468787ORPHA:49382Achromatopsia80
HP:0000575HP:0000575Scotoma0PDE6H CL E G H51498790ORPHA:49382Achromatopsia14
HP:0000575HP:0000575Scotoma0PDZD7 CL E G H7995526257ORPHA:231178Usher syndrome type 2HP:0040281 - Very frequent40
HP:0000575HP:0000575Scotoma0PITPNM3 CL E G H8339421043OMIM:600977Cone-Rod dystrophy 5135
HP:0000575HP:0000575Scotoma0POC1B CL E G H28280930836OMIM:615973Cone-Rod dystrophy 203
HP:0000575HP:0000575Scotoma0PROM1 CL E G H88429454OMIM:612657CONE-ROD DYSTROPHY 12; CORD12110
HP:0000575HP:0000575Scotoma0PROM1 CL E G H88429454OMIM:608051Macular dystrophy, retinal, 2110
HP:0000575HP:0000575Scotoma0PROM1 CL E G H88429454ORPHA:827Stargardt disease110
HP:0000575HP:0000575Scotoma0PRPF3 CL E G H912917348OMIM:601414Retinitis pigmentosa 18.28
HP:0000575HP:0000575Scotoma0PRPH2 CL E G H59619942ORPHA:52427Retinitis punctata albescens159
HP:0000575HP:0000575Scotoma0PRPH2 CL E G H59619942ORPHA:827Stargardt disease159
HP:0000575HP:0000575Scotoma0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent94
HP:0000575HP:0000575Scotoma0RAB28 CL E G H93649768OMIM:615374Cone-Rod dystrophy 186
HP:0000575HP:0000575Scotoma0RBP3 CL E G H59499921OMIM:615233Retinitis pigmentosa 66108
HP:0000575HP:0000575Scotoma0RDH5 CL E G H59599940ORPHA:52427Retinitis punctata albescens32
HP:0000575HP:0000575Scotoma0RHO CL E G H601010012ORPHA:52427Retinitis punctata albescens107
HP:0000575HP:0000575Scotoma0RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophy47
HP:0000575HP:0000575Scotoma0RLBP1 CL E G H601710024OMIM:607476NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD47
HP:0000575HP:0000575Scotoma0RLBP1 CL E G H601710024ORPHA:52427Retinitis punctata albescens47
HP:0000575HP:0000575Scotoma0RP1 CL E G H610110263OMIM:180100Retinitis pigmentosa 1111
HP:0000575HP:0000575Scotoma0RP2 CL E G H610210274OMIM:312600Retinitis pigmentosa 2, X-linked45
HP:0000575HP:0000575Scotoma0RPGR CL E G H610310295ORPHA:49382Achromatopsia200
HP:0000575HP:0000575Scotoma0RPGR CL E G H610310295OMIM:300029Retinitis pigmentosa 3200
HP:0000575HP:0000575Scotoma0RTN4IP1 CL E G H8481618647OMIM:616732OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA102
HP:0000575HP:0000575Scotoma0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent1053
HP:0000575HP:0000575Scotoma0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0000575HP:0000575Scotoma0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndrome15
HP:0000575HP:0000575Scotoma0TMEM126A CL E G H8423325382OMIM:612989Optic atrophy 7 with or without auditory neuropathy23
HP:0000575HP:0000575Scotoma0TRNS2 CL E G H45757498ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent
HP:0000575HP:0000575Scotoma0TRNT1 CL E G H5109517341OMIM:616959Retinitis pigmentosa and erythrocytic microcytosis28
HP:0000575HP:0000575Scotoma0USH1C CL E G H1008312597ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent173
HP:0000575HP:0000575Scotoma0USH1G CL E G H12459016356ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent78
HP:0000575HP:0000575Scotoma0USH2A CL E G H739912601ORPHA:231178Usher syndrome type 2HP:0040281 - Very frequent777
HP:0000575HP:0000575Scotoma0WHRN CL E G H2586116361ORPHA:231178Usher syndrome type 2HP:0040281 - Very frequent155
HP:0000575HP:0010822Scintillating scotoma1 CL E G H
HP:0000575HP:0000603Central scotoma1ABCA4 CL E G H2434OMIM:604116CONE-ROD DYSTROPHY 3; CORD3826
HP:0000575HP:0000603Central scotoma1ABCA4 CL E G H2434ORPHA:827Stargardt diseaseHP:0040281 - Very frequent826
HP:0000575HP:0030528Paracentral scotoma1ACO2 CL E G H50118OMIM:616289Optic atrophy 9.60
HP:0000575HP:0030529Ring scotoma1ARSG CL E G H2290124102OMIM:618144USHER SYNDROME, TYPE IV; USH4
HP:0000575HP:0000603Central scotoma1ATF6 CL E G H22926791ORPHA:49382AchromatopsiaHP:0040282 - Frequent10
HP:0000575HP:0000603Central scotoma1ATF6 CL E G H22926791OMIM:616517ACHROMATOPSIA 7; ACHM710
HP:0000575HP:0000603Central scotoma1ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000576Centrocecal scotoma1ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000576Centrocecal scotoma1ATP6 CL E G H45087414OMIM:535000Leber optic atrophy.
HP:0000575HP:0000603Central scotoma1CACNA1F CL E G H7781393OMIM:300476Cone-Rod dystrophy, X-linked, 358
HP:0000575HP:0000603Central scotoma1CFAP410 CL E G H7551260OMIM:617547Retinal dystrophy with or without macular staphyloma.
HP:0000575HP:0030528Paracentral scotoma1CFH CL E G H30754883ORPHA:75376Familial drusenHP:0040283 - Occasional86
HP:0000575HP:0030528Paracentral scotoma1CFI CL E G H34265394ORPHA:75376Familial drusenHP:0040283 - Occasional57
HP:0000575HP:0000603Central scotoma1CNGA3 CL E G H12612150ORPHA:49382AchromatopsiaHP:0040282 - Frequent82
HP:0000575HP:0000603Central scotoma1CNGB3 CL E G H547142153ORPHA:49382AchromatopsiaHP:0040282 - Frequent194
HP:0000575HP:0000603Central scotoma1CNGB3 CL E G H547142153ORPHA:827Stargardt diseaseHP:0040281 - Very frequent194
HP:0000575HP:0000603Central scotoma1COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000576Centrocecal scotoma1COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000576Centrocecal scotoma1COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000603Central scotoma1COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000576Centrocecal scotoma1COX3 CL E G H45147422OMIM:535000Leber optic atrophy.
HP:0000575HP:0000603Central scotoma1CRX CL E G H14062383OMIM:120970Cone-Rod dystrophy 2158
HP:0000575HP:0000603Central scotoma1CYP1B1 CL E G H15452597ORPHA:98977Juvenile glaucomaHP:0040284 - Very rare101
HP:0000575HP:0030528Paracentral scotoma1CYP4V2 CL E G H28544023198OMIM:210370Bietti crystalline corneoretinal dystrophy.126
HP:0000575HP:0030528Paracentral scotoma1CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophyHP:0040283 - Occasional126
HP:0000575HP:0000603Central scotoma1CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophyHP:0040283 - Occasional126
HP:0000575HP:0000603Central scotoma1CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000576Centrocecal scotoma1CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000576Centrocecal scotoma1CYTB CL E G H45197427OMIM:535000Leber optic atrophy.
HP:0000575HP:0000576Centrocecal scotoma1DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000603Central scotoma1DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000603Central scotoma1DNAJC30 CL E G H8427716410OMIM:619382LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000575HP:0000603Central scotoma1DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040283 - Occasional94
HP:0000575HP:0000603Central scotoma1DNM1L CL E G H100592973OMIM:610708Optic atrophy 5.94
HP:0000575HP:0030528Paracentral scotoma1EFEMP1 CL E G H22023218ORPHA:75376Familial drusenHP:0040283 - Occasional54
HP:0000575HP:0000603Central scotoma1EFEMP1 CL E G H22023218ORPHA:98977Juvenile glaucomaHP:0040284 - Very rare54
HP:0000575HP:0000603Central scotoma1ELOVL4 CL E G H678514415ORPHA:827Stargardt diseaseHP:0040281 - Very frequent62
HP:0000575HP:0000603Central scotoma1FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040283 - Occasional
HP:0000575HP:0030529Ring scotoma1FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0000575HP:0000603Central scotoma1GNAT2 CL E G H27804394ORPHA:49382AchromatopsiaHP:0040282 - Frequent19
HP:0000575HP:0030528Paracentral scotoma1HKDC1 CL E G H8020123302OMIM:619614RETINITIS PIGMENTOSA 92; RP922
HP:0000575HP:0030530Arcuate scotoma1HLA-A CL E G H31054931ORPHA:179Birdshot chorioretinopathyHP:0040283 - Occasional4
HP:0000575HP:0000603Central scotoma1IMPG2 CL E G H5093918362OMIM:616152Macular dystrophy, vitelliform, 5.120
HP:0000575HP:0000603Central scotoma1ITM2B CL E G H94456174OMIM:616079Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities.3
HP:0000575HP:0000603Central scotoma1LOC111365204 CL E G H111365204OMIM:136550Macular dystrophy, retinal, 1, north Carolina type.
HP:0000575HP:0000603Central scotoma1MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI.203
HP:0000575HP:0000603Central scotoma1MFSD8 CL E G H25647128486OMIM:616170Macular dystrophy with central cone involvement.120
HP:0000575HP:0000603Central scotoma1MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive.
HP:0000575HP:0000603Central scotoma1MYOC CL E G H46537610ORPHA:98977Juvenile glaucomaHP:0040284 - Very rare47
HP:0000575HP:0000576Centrocecal scotoma1ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000603Central scotoma1ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000576Centrocecal scotoma1ND1 CL E G H45357455OMIM:535000Leber optic atrophy.
HP:0000575HP:0000603Central scotoma1ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000576Centrocecal scotoma1ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000576Centrocecal scotoma1ND2 CL E G H45367456OMIM:535000Leber optic atrophy.
HP:0000575HP:0000603Central scotoma1ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000576Centrocecal scotoma1ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000576Centrocecal scotoma1ND4 CL E G H45387459OMIM:535000Leber optic atrophy.
HP:0000575HP:0000576Centrocecal scotoma1ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000603Central scotoma1ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000576Centrocecal scotoma1ND4L CL E G H45397460OMIM:535000Leber optic atrophy.
HP:0000575HP:0000576Centrocecal scotoma1ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000603Central scotoma1ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000576Centrocecal scotoma1ND5 CL E G H45407461OMIM:535000Leber optic atrophy.
HP:0000575HP:0000603Central scotoma1ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000576Centrocecal scotoma1ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000575HP:0000576Centrocecal scotoma1ND6 CL E G H45417462OMIM:535000Leber optic atrophy.
HP:0000575HP:0000576Centrocecal scotoma1NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent65
HP:0000575HP:0000603Central scotoma1NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent65
HP:0000575HP:0000603Central scotoma1OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040283 - Occasional214
HP:0000575HP:0000603Central scotoma1OPA1 CL E G H49768140OMIM:165500Optic atrophy 1.214
HP:0000575HP:0000576Centrocecal scotoma1OPA1 CL E G H49768140OMIM:165500Optic atrophy 1.214
HP:0000575HP:0000603Central scotoma1OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy.214
HP:0000575HP:0000576Centrocecal scotoma1OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy.214
HP:0000575HP:0000603Central scotoma1OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040282 - Frequent163
HP:0000575HP:0000603Central scotoma1PDE6C CL E G H51468787ORPHA:49382AchromatopsiaHP:0040282 - Frequent80
HP:0000575HP:0000603Central scotoma1PDE6H CL E G H51498790ORPHA:49382AchromatopsiaHP:0040282 - Frequent14
HP:0000575HP:0000603Central scotoma1PITPNM3 CL E G H8339421043OMIM:600977Cone-Rod dystrophy 5135
HP:0000575HP:0000603Central scotoma1POC1B CL E G H28280930836OMIM:615973Cone-Rod dystrophy 20.3
HP:0000575HP:0000603Central scotoma1PROM1 CL E G H88429454OMIM:612657CONE-ROD DYSTROPHY 12; CORD12110
HP:0000575HP:0000603Central scotoma1PROM1 CL E G H88429454OMIM:608051Macular dystrophy, retinal, 2.110
HP:0000575HP:0000603Central scotoma1PROM1 CL E G H88429454ORPHA:827Stargardt diseaseHP:0040281 - Very frequent110
HP:0000575HP:0000603Central scotoma1PRPH2 CL E G H59619942ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent159
HP:0000575HP:0000603Central scotoma1PRPH2 CL E G H59619942ORPHA:827Stargardt diseaseHP:0040281 - Very frequent159
HP:0000575HP:0000603Central scotoma1RAB28 CL E G H93649768OMIM:615374Cone-Rod dystrophy 18.6
HP:0000575HP:0000603Central scotoma1RBP3 CL E G H59499921OMIM:615233Retinitis pigmentosa 66.108
HP:0000575HP:0000603Central scotoma1RDH5 CL E G H59599940ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent32
HP:0000575HP:0000603Central scotoma1RHO CL E G H601010012ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent107
HP:0000575HP:0000603Central scotoma1RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophyHP:0040283 - Occasional47
HP:0000575HP:0030529Ring scotoma1RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophyHP:0040283 - Occasional47
HP:0000575HP:0030528Paracentral scotoma1RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophyHP:0040283 - Occasional47
HP:0000575HP:0000603Central scotoma1RLBP1 CL E G H601710024ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent47
HP:0000575HP:0007761Pericentral scotoma1RP2 CL E G H610210274OMIM:312600Retinitis pigmentosa 2, X-linked45
HP:0000575HP:0030529Ring scotoma1RP2 CL E G H610210274OMIM:312600Retinitis pigmentosa 2, X-linked45
HP:0000575HP:0000603Central scotoma1RP2 CL E G H610210274OMIM:312600Retinitis pigmentosa 2, X-linked45
HP:0000575HP:0000603Central scotoma1RPGR CL E G H610310295ORPHA:49382AchromatopsiaHP:0040282 - Frequent200
HP:0000575HP:0030529Ring scotoma1RPGR CL E G H610310295OMIM:300029Retinitis pigmentosa 3200
HP:0000575HP:0000603Central scotoma1RTN4IP1 CL E G H8481618647OMIM:616732OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA102
HP:0000575HP:0000603Central scotoma1TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040283 - Occasional15
HP:0000575HP:0000603Central scotoma1TMEM126A CL E G H8423325382OMIM:612989Optic atrophy 7 with or without auditory neuropathy23
HP:0000575HP:0030529Ring scotoma1TRNT1 CL E G H5109517341OMIM:616959Retinitis pigmentosa and erythrocytic microcytosis28


Genes (86) :ABCA4 ACO2 ADGRV1 ARSG ATF6 ATP1A2 ATP6 BTD C1QTNF5 CACNA1A CACNA1F CDH23 CEP78 CFAP410 CFH CFI CIB2 CLRN1 CNGA3 CNGB3 CNNM4 COX1 COX3 CRX CYP1B1 CYP4V2 CYTB DNAJC30 DNM1L EFEMP1 ELOVL4 ESPN FDXR FLVCR1 GNAT2 HARS1 HKDC1 HLA-A IMPG2 ITM2B KCNV2 LOC111365204 MFN2 MFSD8 MTRFR MTTP MYO7A MYOC ND1 ND2 ND4 ND4L ND5 ND6 NDUFS2 OPA1 OPA3 PCDH15 PDE6C PDE6H PDZD7 PITPNM3 POC1B PROM1 PRPF3 PRPH2 PRRT2 RAB28 RBP3 RDH5 RHO RLBP1 RP1 RP2 RPGR RTN4IP1 SCN1A SLC25A46 TIMM8A TMEM126A TRNS2 TRNT1 USH1C USH1G USH2A WHRN

Diseases (59) :OMIM:604116 ORPHA:827 OMIM:616289 ORPHA:231178 ORPHA:231183 OMIM:618144 ORPHA:49382 OMIM:616517 ORPHA:569 ORPHA:104 OMIM:535000 ORPHA:79241 OMIM:605670 OMIM:300476 ORPHA:231169 OMIM:617547 ORPHA:75376 OMIM:217080 OMIM:120970 ORPHA:98977 OMIM:210370 ORPHA:41751 OMIM:619382 ORPHA:98673 OMIM:610708 ORPHA:543470 OMIM:609033 OMIM:619614 ORPHA:179 OMIM:616152 OMIM:616079 OMIM:610356 OMIM:136550 OMIM:601152 OMIM:616170 OMIM:615035 ORPHA:14 OMIM:165500 OMIM:125250 ORPHA:67036 OMIM:165300 OMIM:600977 OMIM:615973 OMIM:612657 OMIM:608051 OMIM:601414 ORPHA:52427 OMIM:615374 OMIM:615233 ORPHA:85128 OMIM:607476 OMIM:180100 OMIM:312600 OMIM:300029 OMIM:616732 OMIM:616505 ORPHA:52368 OMIM:612989 OMIM:616959
 

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