Human Phenotype Ontology 
Grandparent Node:
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Abnormal cornea morphology (HP:0000481)help
Parent Node:
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Abnormality of refraction (HP:0000539)help
Parent Node:
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Abnormality of the curvature of the cornea (HP:0100691)help
..Starting node
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Astigmatism (HP:0000483)help
Term ID: 483
Name: Astigmatism
Synonym: Abnormal curving of the cornea or lens of the eye
Definition: A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.
Comments:
Reference: HP:0000483
Genes and Diseases:
 
       Child Nodes:
........expandHyperopic astigmatism (HP:0000484) help
........expandCorneal astigmatism (HP:0025612) help
........expandOblique astigmatism (HP:0031787) help
........expandWith the rule astigmatism (HP:0031788) help
........expandAgainst the rule astigmatism (HP:0031789) help
........expandMixed astigmatism (HP:0031790) help
........expandLenticular astigmatism (HP:0031791) help
........expandIrregular astigmatism (HP:0031792) help
........expandMyopic astigmatism (HP:0500041) help

 Sister Nodes: 
..expandFlat cornea (HP:0007720) help
..expandIncreased corneal curvature (HP:0100692) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000483HP:0000483Astigmatism0AP3D1 CL E G H8943284804ORPHA14220568607246
HP:0000483HP:0000483Astigmatism0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1365649600820
HP:0000483HP:0000483Astigmatism0ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM1237682607560
HP:0000483HP:0000483Astigmatism0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118881518040614556
HP:0000483HP:0000483Astigmatism0ARSG CL E G H22901231183ORPHA1317424102610008
HP:0000483HP:0000483Astigmatism0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105489966209901
HP:0000483HP:0000483Astigmatism0BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM143420914609762
HP:0000483HP:0000483Astigmatism0C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM17431243601269
HP:0000483HP:0000483Astigmatism0CACNA1F CL E G H778178333ORPHA11856521393300110
HP:0000483HP:0000483Astigmatism0CACNA1F CL E G H778300600Ocular albinism, type II300600C0268505OMIM11856521393300110
HP:0000483HP:0000483Astigmatism0CC2D2A CL E G H57545612285Joubert syndrome 9612285C2676788OMIM19686529253612013
HP:0000483HP:0000483Astigmatism0CEP78 CL E G H84131231183ORPHA11028225740617110
HP:0000483HP:0000483Astigmatism0CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM1101141918602120
HP:0000483HP:0000483Astigmatism0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM1231701919603277
HP:0000483HP:0000483Astigmatism0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM131668740164010
HP:0000483HP:0000483Astigmatism0CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM12119529861300350
HP:0000483HP:0000483Astigmatism0CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM1652252037603959
HP:0000483HP:0000483Astigmatism0CLDN19 CL E G H149461248190Hypomagnesemia 5, renal, with ocular involvement248190C1855466OMIM1211102040610036
HP:0000483HP:0000483Astigmatism0CLRN1 CL E G H7401231183ORPHA13923912605606397
HP:0000483HP:0000483Astigmatism0COL11A1 CL E G H1301250984ORPHA11069382186120280
HP:0000483HP:0000483Astigmatism0COL9A1 CL E G H1297250984ORPHA165632217120210
HP:0000483HP:0000483Astigmatism0COL9A2 CL E G H1298250984ORPHA1133152218120260
HP:0000483HP:0000483Astigmatism0COL9A3 CL E G H1299250984ORPHA1174322219120270
HP:0000483HP:0000483Astigmatism0DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM1118427030617048
HP:0000483HP:0000483Astigmatism0DPYD CL E G H1806293948ORPHA11243313012612779
HP:0000483HP:0000483Astigmatism0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM12618119087607407
HP:0000483HP:0000483Astigmatism0EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM1728428957616846
HP:0000483HP:0000483Astigmatism0FANCI CL E G H55215609053Fanconi anemia, complementation group I609053C1836861OMIM14577425568611360
HP:0000483HP:0000483Astigmatism0GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM1191564329138492
HP:0000483HP:0000483Astigmatism0GPR143 CL E G H493554ORPHA118129420145300808
HP:0000483HP:0000483Astigmatism0HARS CL E G H3035231183ORPHA1134816142810
HP:0000483HP:0000483Astigmatism0HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM154718142220
HP:0000483HP:0000483Astigmatism0KCNV2 CL E G H169522610356Retinal cone dystrophy 3B610356C1835897OMIM19455019698607604
HP:0000483HP:0000483Astigmatism0KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM1338118039605393
HP:0000483HP:0000483Astigmatism0KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM11513829508615759
HP:0000483HP:0000483Astigmatism0MAG CL E G H4099459056ORPHA141096783159460
HP:0000483HP:0000483Astigmatism0MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM141096783159460
HP:0000483HP:0000483Astigmatism0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19185220444611472
HP:0000483HP:0000483Astigmatism0MIR184 CL E G H406960614303EDICT syndrome614303C3280392OMIM142531555613146
HP:0000483HP:0000483Astigmatism0MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000483HP:0000483Astigmatism0NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM11042017788164005
HP:0000483HP:0000483Astigmatism0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM143797628862608667
HP:0000483HP:0000483Astigmatism0PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM1215123794610423
HP:0000483HP:0000483Astigmatism0PCYT1A CL E G H513085167ORPHA1202068754123695
HP:0000483HP:0000483Astigmatism0PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM13263426270613629
HP:0000483HP:0000483Astigmatism0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15434618801614787
HP:0000483HP:0000483Astigmatism0PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM1118825557610087
HP:0000483HP:0000483Astigmatism0SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM13837925566615743
HP:0000483HP:0000483Astigmatism0SLC25A24 CL E G H299572095ORPHA126920662608744
HP:0000483HP:0000483Astigmatism0SLC39A8 CL E G H64116616721CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn616721C4225234OMIM178720862608732
HP:0000483HP:0000483Astigmatism0SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM18848911102606622
HP:0000483HP:0000483Astigmatism0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA114873711634602272
HP:0000483HP:0000483Astigmatism0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114873711634602272
HP:0000483HP:0000483Astigmatism0TEAD1 CL E G H7003108985Sveinsson chorioretinal atrophy108985C1862382OMIM127511714189967
HP:0000483HP:0000483Astigmatism0TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM1232117523605073
HP:0000483HP:0000483Astigmatism0TUB CL E G H7275616188Retinal dystrophy and obesity616188C4015424OMIM1320012406601197
HP:0000483HP:0000483Astigmatism0TYR CL E G H7299203100Tyrosinase-negative oculocutaneous albinism203100C0268494OMIM144525212442606933
HP:0000483HP:0000483Astigmatism0UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM1256213478608047
HP:0000483HP:0000483Astigmatism0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12844012632300072
HP:0000483HP:0000483Astigmatism0VARS CL E G H7407617802NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY617802C4540493OMIM1812651192150
HP:0000483HP:0000483Astigmatism0VSX1 CL E G H30813148300Keratoconus 1148300C1835677OMIM12410512723605020
HP:0000483HP:0000483Astigmatism0WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM12516217327615049
HP:0000483HP:0000483Astigmatism1AP3D1 CL E G H8943284804ORPHA14220568607246
HP:0000483HP:0000483Astigmatism1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1365649600820
HP:0000483HP:0000483Astigmatism1ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM1237682607560
HP:0000483HP:0000483Astigmatism1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118881518040614556
HP:0000483HP:0000483Astigmatism1ARSG CL E G H22901231183ORPHA1317424102610008
HP:0000483HP:0000483Astigmatism1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105489966209901
HP:0000483HP:0000483Astigmatism1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM143420914609762
HP:0000483HP:0000483Astigmatism1C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM17431243601269
HP:0000483HP:0000483Astigmatism1CACNA1F CL E G H778178333ORPHA11856521393300110
HP:0000483HP:0000483Astigmatism1CACNA1F CL E G H778300600Ocular albinism, type II300600C0268505OMIM11856521393300110
HP:0000483HP:0000483Astigmatism1CC2D2A CL E G H57545612285Joubert syndrome 9612285C2676788OMIM19686529253612013
HP:0000483HP:0000483Astigmatism1CEP78 CL E G H84131231183ORPHA11028225740617110
HP:0000483HP:0000483Astigmatism1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM1101141918602120
HP:0000483HP:0000483Astigmatism1CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM1231701919603277
HP:0000483HP:0000483Astigmatism1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM131668740164010
HP:0000483HP:0000483Astigmatism1CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM12119529861300350
HP:0000483HP:0000483Astigmatism1CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM1652252037603959
HP:0000483HP:0000483Astigmatism1CLDN19 CL E G H149461248190Hypomagnesemia 5, renal, with ocular involvement248190C1855466OMIM1211102040610036
HP:0000483HP:0000483Astigmatism1CLRN1 CL E G H7401231183ORPHA13923912605606397
HP:0000483HP:0000483Astigmatism1COL11A1 CL E G H1301250984ORPHA11069382186120280
HP:0000483HP:0000483Astigmatism1COL9A1 CL E G H1297250984ORPHA165632217120210
HP:0000483HP:0000483Astigmatism1COL9A2 CL E G H1298250984ORPHA1133152218120260
HP:0000483HP:0000483Astigmatism1COL9A3 CL E G H1299250984ORPHA1174322219120270
HP:0000483HP:0000483Astigmatism1DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM1118427030617048
HP:0000483HP:0000483Astigmatism1DPYD CL E G H1806293948ORPHA11243313012612779
HP:0000483HP:0000483Astigmatism1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM12618119087607407
HP:0000483HP:0000483Astigmatism1EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM1728428957616846
HP:0000483HP:0000483Astigmatism1FANCI CL E G H55215609053Fanconi anemia, complementation group I609053C1836861OMIM14577425568611360
HP:0000483HP:0000483Astigmatism1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM1191564329138492
HP:0000483HP:0000483Astigmatism1GPR143 CL E G H493554ORPHA118129420145300808
HP:0000483HP:0000483Astigmatism1HARS CL E G H3035231183ORPHA1134816142810
HP:0000483HP:0000483Astigmatism1HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM154718142220
HP:0000483HP:0000483Astigmatism1KCNV2 CL E G H169522610356Retinal cone dystrophy 3B610356C1835897OMIM19455019698607604
HP:0000483HP:0000483Astigmatism1KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM1338118039605393
HP:0000483HP:0000483Astigmatism1KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM11513829508615759
HP:0000483HP:0000483Astigmatism1MAG CL E G H4099459056ORPHA141096783159460
HP:0000483HP:0000483Astigmatism1MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM141096783159460
HP:0000483HP:0000483Astigmatism1MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19185220444611472
HP:0000483HP:0000483Astigmatism1MIR184 CL E G H406960614303EDICT syndrome614303C3280392OMIM142531555613146
HP:0000483HP:0000483Astigmatism1MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000483HP:0000483Astigmatism1NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM11042017788164005
HP:0000483HP:0000483Astigmatism1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM143797628862608667
HP:0000483HP:0000483Astigmatism1PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM1215123794610423
HP:0000483HP:0000483Astigmatism1PCYT1A CL E G H513085167ORPHA1202068754123695
HP:0000483HP:0000483Astigmatism1PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM13263426270613629
HP:0000483HP:0000483Astigmatism1POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15434618801614787
HP:0000483HP:0000483Astigmatism1PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM1118825557610087
HP:0000483HP:0000483Astigmatism1SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM13837925566615743
HP:0000483HP:0000483Astigmatism1SLC25A24 CL E G H299572095ORPHA126920662608744
HP:0000483HP:0000483Astigmatism1SLC39A8 CL E G H64116616721CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn616721C4225234OMIM178720862608732
HP:0000483HP:0000483Astigmatism1SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM18848911102606622
HP:0000483HP:0000483Astigmatism1TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA114873711634602272
HP:0000483HP:0000483Astigmatism1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114873711634602272
HP:0000483HP:0000483Astigmatism1TEAD1 CL E G H7003108985Sveinsson chorioretinal atrophy108985C1862382OMIM127511714189967
HP:0000483HP:0000483Astigmatism1TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM1232117523605073
HP:0000483HP:0000483Astigmatism1TUB CL E G H7275616188Retinal dystrophy and obesity616188C4015424OMIM1320012406601197
HP:0000483HP:0000483Astigmatism1TYR CL E G H7299203100Tyrosinase-negative oculocutaneous albinism203100C0268494OMIM144525212442606933
HP:0000483HP:0000483Astigmatism1UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM1256213478608047
HP:0000483HP:0000483Astigmatism1USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12844012632300072
HP:0000483HP:0000483Astigmatism1VARS CL E G H7407617802NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY617802C4540493OMIM1812651192150
HP:0000483HP:0000483Astigmatism1VSX1 CL E G H30813148300Keratoconus 1148300C1835677OMIM12410512723605020
HP:0000483HP:0000483Astigmatism1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM12516217327615049
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000483HP:0000483Astigmatism0ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA0134102021316611192
HP:0000483HP:0000483Astigmatism0BRCA1 CL E G H67284ORPHA02824124561100113705
HP:0000483HP:0000483Astigmatism0BRCA2 CL E G H67584ORPHA03025142351101600185
HP:0000483HP:0000483Astigmatism0BRIP1 CL E G H8399084ORPHA0202343220473605882
HP:0000483HP:0000483Astigmatism0CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM01856521393300110
HP:0000483HP:0000483Astigmatism0COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01147842202120130
HP:0000483HP:0000483Astigmatism0COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM065632217120210
HP:0000483HP:0000483Astigmatism0ERCC4 CL E G H207284ORPHA0724503436133520
HP:0000483HP:0000483Astigmatism0ERCC4 CL E G H2072278760Xeroderma pigmentosum, group F278760C0268140OMIM0724503436133520
HP:0000483HP:0000483Astigmatism0FANCA CL E G H217584ORPHA068926363582607139
HP:0000483HP:0000483Astigmatism0FANCB CL E G H218784ORPHA0214013583300515
HP:0000483HP:0000483Astigmatism0FANCC CL E G H217684ORPHA06510623584613899
HP:0000483HP:0000483Astigmatism0FANCD2 CL E G H217784ORPHA0647013585613984
HP:0000483HP:0000483Astigmatism0FANCE CL E G H217884ORPHA0172673586613976
HP:0000483HP:0000483Astigmatism0FANCF CL E G H218884ORPHA0162423587613897
HP:0000483HP:0000483Astigmatism0FANCG CL E G H218984ORPHA0924633588602956
HP:0000483HP:0000483Astigmatism0FANCI CL E G H5521584ORPHA04577425568611360
HP:0000483HP:0000483Astigmatism0FANCL CL E G H5512084ORPHA02425620748608111
HP:0000483HP:0000483Astigmatism0FANCM CL E G H5769784ORPHA053110323168609644
HP:0000483HP:0000483Astigmatism0KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM04534615840606834
HP:0000483HP:0000483Astigmatism0MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0000483HP:0000483Astigmatism0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02622815455300294
HP:0000483HP:0000483Astigmatism0PALB2 CL E G H7972884ORPHA0417390326144610355
HP:0000483HP:0000483Astigmatism0RAD51 CL E G H588884ORPHA016699817179617
HP:0000483HP:0000483Astigmatism0RAD51C CL E G H588984ORPHA013112609820602774
HP:0000483HP:0000483Astigmatism0RFWD3 CL E G H5515984ORPHA025425539614151
HP:0000483HP:0000483Astigmatism0RNU4ATAC CL E G H1001516831824Devriendt Legius Fryns syndromeORPHA0247634016601428
HP:0000483HP:0000483Astigmatism0SLX4 CL E G H8446484ORPHA072106123845613278
HP:0000483HP:0000483Astigmatism0TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM028821066612655
HP:0000483HP:0000483Astigmatism0TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA0826011582604934
HP:0000483HP:0000483Astigmatism0UBE2T CL E G H2908984ORPHA072525009610538
HP:0000483HP:0000483Astigmatism0XRCC2 CL E G H751684ORPHA02340812829600375
HP:0000483HP:0000483Astigmatism1ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA0134102021316611192
HP:0000483HP:0000483Astigmatism1BRCA1 CL E G H67284ORPHA02824124561100113705
HP:0000483HP:0000483Astigmatism1BRCA2 CL E G H67584ORPHA03025142351101600185
HP:0000483HP:0000483Astigmatism1BRIP1 CL E G H8399084ORPHA0202343220473605882
HP:0000483HP:0000483Astigmatism1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM01856521393300110
HP:0000483HP:0000483Astigmatism1COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01147842202120130
HP:0000483HP:0000483Astigmatism1COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM065632217120210
HP:0000483HP:0000483Astigmatism1ERCC4 CL E G H207284ORPHA0724503436133520
HP:0000483HP:0000483Astigmatism1ERCC4 CL E G H2072278760Xeroderma pigmentosum, group F278760C0268140OMIM0724503436133520
HP:0000483HP:0000483Astigmatism1FANCA CL E G H217584ORPHA068926363582607139
HP:0000483HP:0000483Astigmatism1FANCB CL E G H218784ORPHA0214013583300515
HP:0000483HP:0000483Astigmatism1FANCC CL E G H217684ORPHA06510623584613899
HP:0000483HP:0000483Astigmatism1FANCD2 CL E G H217784ORPHA0647013585613984
HP:0000483HP:0000483Astigmatism1FANCE CL E G H217884ORPHA0172673586613976
HP:0000483HP:0000483Astigmatism1FANCF CL E G H218884ORPHA0162423587613897
HP:0000483HP:0000483Astigmatism1FANCG CL E G H218984ORPHA0924633588602956
HP:0000483HP:0000483Astigmatism1FANCI CL E G H5521584ORPHA04577425568611360
HP:0000483HP:0000483Astigmatism1FANCL CL E G H5512084ORPHA02425620748608111
HP:0000483HP:0000483Astigmatism1FANCM CL E G H5769784ORPHA053110323168609644
HP:0000483HP:0000483Astigmatism1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM04534615840606834
HP:0000483HP:0000483Astigmatism1MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0000483HP:0000483Astigmatism1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02622815455300294
HP:0000483HP:0000483Astigmatism1PALB2 CL E G H7972884ORPHA0417390326144610355
HP:0000483HP:0000483Astigmatism1RAD51 CL E G H588884ORPHA016699817179617
HP:0000483HP:0000483Astigmatism1RAD51C CL E G H588984ORPHA013112609820602774
HP:0000483HP:0000483Astigmatism1RFWD3 CL E G H5515984ORPHA025425539614151
HP:0000483HP:0000483Astigmatism1RNU4ATAC CL E G H1001516831824Devriendt Legius Fryns syndromeORPHA0247634016601428
HP:0000483HP:0000483Astigmatism1SLX4 CL E G H8446484ORPHA072106123845613278
HP:0000483HP:0000483Astigmatism1TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM028821066612655
HP:0000483HP:0000483Astigmatism1TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA0826011582604934
HP:0000483HP:0000483Astigmatism1UBE2T CL E G H2908984ORPHA072525009610538
HP:0000483HP:0000483Astigmatism1XRCC2 CL E G H751684ORPHA02340812829600375


Genes (92) :AGBL5 ANKRD11 AP3D1 ARCN1 ARHGEF2 ARID1B ARSG BBS1 BLOC1S3 BRCA1 BRCA2 BRIP1 C1QBP CACNA1F CC2D2A CEP78 CHD3 CHD4 CHMP1A CHRDL1 CLDN16 CLDN19 CLRN1 COL11A1 COL4A1 COL9A1 COL9A2 COL9A3 DNAJC21 DPYD EBF3 EMC1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM GLRB GNPTAB GPR143 HARS HIST1H1E KCNV2 KDM5B KIDINS220 KIF11 KMT2B MAD2L2 MAG MBD5 MBTPS2 MIR184 MT-TS2 NFIX NIPBL PACS2 PALB2 PCYT1A PIEZO2 PITX2 POGZ PRMT7 RAD51 RAD51C RFWD3 RNU4ATAC SETD5 SLC25A24 SLC39A8 SLX4 SMARCAL1 TBC1D7 TBCE TCF4 TEAD1 TRIM37 TRNS2 TUB TYR UBE2T UBE3B USP9X VARS VSX1 WAC XRCC2

Diseases (71) :261250 284804 617164 617523 135900 231183 209900 614077 84 617713 178333 300476 300600 612285 618205 617159 614961 309300 248250 248190 250984 607595 614134 617052 293948 617330 616875 278760 609053 614619 54 617537 610356 618109 617296 617284 459056 616680 156200 2273 614303 614753 122470 618067 85167 108145 616364 617157 1824 615761 2095 616721 242900 248000 2323 2896 610954 108985 253250 616188 203100 244450 300968 617802 148300 616708 617023 252600 300814 152950 180550
 

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