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; Astigmatism
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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000483HP:0000483Astigmatism0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0000483HP:0000483Astigmatism0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0000483HP:0000483Astigmatism0AGBL5 CL E G H6050926147OMIM:617023Retinitis pigmentosa 752
HP:0000483HP:0000483Astigmatism0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome87
HP:0000483HP:0000483Astigmatism0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040283 - Occasional102
HP:0000483HP:0000483Astigmatism0AP3D1 CL E G H8943568ORPHA:54X-linked recessive ocular albinismHP:0040281 - Very frequent1
HP:0000483HP:0000483Astigmatism0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040282 - Frequent1
HP:0000483HP:0000483Astigmatism0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.3
HP:0000483HP:0000483Astigmatism0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations.1
HP:0000483HP:0000483Astigmatism0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0000483HP:0000483Astigmatism0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0000483HP:0000483Astigmatism0ARPC4 CL E G H10093707OMIM:620141
HP:0000483HP:0000483Astigmatism0ARSG CL E G H2290124102ORPHA:231183Usher syndrome type 3HP:0040282 - Frequent
HP:0000483HP:0000483Astigmatism0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000483HP:0000483Astigmatism0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0000483HP:0000483Astigmatism0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0000483HP:0000483Astigmatism0BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0000483HP:0000483Astigmatism0BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 8.42
HP:0000483HP:0000483Astigmatism0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0000483HP:0000483Astigmatism0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0000483HP:0000483Astigmatism0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0000483HP:0000483Astigmatism0C1QBP CL E G H7081243OMIM:617713Combined oxidative phosphorylation deficiency 33.
HP:0000483HP:0000483Astigmatism0CACNA1F CL E G H7781393OMIM:300600Aland island eye disease.58
HP:0000483HP:0000483Astigmatism0CACNA1F CL E G H7781393ORPHA:178333Ã…land Islands eye diseaseHP:0040281 - Very frequent58
HP:0000483HP:0000483Astigmatism0CACNA1F CL E G H7781393OMIM:300476Cone-Rod dystrophy, X-linked, 3HP:0040283 - Occasional58
HP:0000483HP:0000483Astigmatism0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0000483HP:0000483Astigmatism0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0000483HP:0000483Astigmatism0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000483HP:0000483Astigmatism0CC2D2A CL E G H5754529253OMIM:612285Joubert syndrome 9.247
HP:0000483HP:0000483Astigmatism0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0000483HP:0000483Astigmatism0CEP78 CL E G H8413125740ORPHA:231183Usher syndrome type 3HP:0040282 - Frequent9
HP:0000483HP:0000483Astigmatism0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0000483HP:0000483Astigmatism0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome.14
HP:0000483HP:0000483Astigmatism0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 8.19
HP:0000483HP:0000483Astigmatism0CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA.9
HP:0000483HP:0000483Astigmatism0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0000483HP:0000483Astigmatism0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent27
HP:0000483HP:0000483Astigmatism0CHST6 CL E G H41666938ORPHA:98969Macular corneal dystrophy129
HP:0000483HP:0000483Astigmatism0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0000483HP:0000483Astigmatism0CLDN16 CL E G H106862037OMIM:248250Hypomagnesemia 3, renal.58
HP:0000483HP:0000483Astigmatism0CLDN19 CL E G H1494612040OMIM:248190Hypomagnesemia 5, renal, with or without ocular involvement.42
HP:0000483HP:0000483Astigmatism0CLRN1 CL E G H740112605ORPHA:231183Usher syndrome type 3HP:0040282 - Frequent60
HP:0000483HP:0000483Astigmatism0CNGA3 CL E G H12612150OMIM:216900Achromatopsia 282
HP:0000483HP:0000483Astigmatism0COL11A1 CL E G H13012186ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent215
HP:0000483HP:0000483Astigmatism0COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophy129
HP:0000483HP:0000483Astigmatism0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0000483HP:0000483Astigmatism0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000483HP:0000483Astigmatism0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomaliesHP:0040284 - Very rare193
HP:0000483HP:0000483Astigmatism0COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional3
HP:0000483HP:0000483Astigmatism0COL9A1 CL E G H12972217ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent110
HP:0000483HP:0000483Astigmatism0COL9A1 CL E G H12972217OMIM:614134STICKLER SYNDROME, TYPE IV; STL4110
HP:0000483HP:0000483Astigmatism0COL9A2 CL E G H12982218ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent110
HP:0000483HP:0000483Astigmatism0COL9A3 CL E G H12992219OMIM:620022137
HP:0000483HP:0000483Astigmatism0COL9A3 CL E G H12992219ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent137
HP:0000483HP:0000483Astigmatism0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0000483HP:0000483Astigmatism0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0000483HP:0000483Astigmatism0DPYD CL E G H18063012ORPHA:2939481p21.3 microdeletion syndromeHP:0040281 - Very frequent144
HP:0000483HP:0000483Astigmatism0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0000483HP:0000483Astigmatism0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent13
HP:0000483HP:0000483Astigmatism0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040284 - Very rare134
HP:0000483HP:0000483Astigmatism0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040283 - Occasional134
HP:0000483HP:0000483Astigmatism0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000483HP:0000483Astigmatism0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000483HP:0000483Astigmatism0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0000483HP:0000483Astigmatism0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeHP:0040283 - Occasional5
HP:0000483HP:0000483Astigmatism0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000483HP:0000483Astigmatism0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000483HP:0000483Astigmatism0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0000483HP:0000483Astigmatism0ERCC4 CL E G H20723436OMIM:278760Xeroderma pigmentosum, complementation group FHP:0040283 - Occasional158
HP:0000483HP:0000483Astigmatism0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000483HP:0000483Astigmatism0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0000483HP:0000483Astigmatism0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0000483HP:0000483Astigmatism0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0000483HP:0000483Astigmatism0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0000483HP:0000483Astigmatism0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000483HP:0000483Astigmatism0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0000483HP:0000483Astigmatism0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000483HP:0000483Astigmatism0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0000483HP:0000483Astigmatism0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I.157
HP:0000483HP:0000483Astigmatism0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0000483HP:0000483Astigmatism0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0000483HP:0000483Astigmatism0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0000483HP:0000483Astigmatism0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0000483HP:0000483Astigmatism0FBXW7 CL E G H5529416712OMIM:62001222
HP:0000483HP:0000483Astigmatism0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040283 - Occasional2
HP:0000483HP:0000483Astigmatism0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040283 - Occasional493
HP:0000483HP:0000483Astigmatism0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000483HP:0000483Astigmatism0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040283 - Occasional33
HP:0000483HP:0000483Astigmatism0GLRB CL E G H27434329OMIM:614619Hyperekplexia 2.46
HP:0000483HP:0000483Astigmatism0GNPTAB CL E G H7915829670OMIM:252600Mucolipidosis III alpha/beta240
HP:0000483HP:0000483Astigmatism0GPR143 CL E G H493520145OMIM:300814Nystagmus 6, congenital, X-linked64
HP:0000483HP:0000483Astigmatism0GPR143 CL E G H493520145ORPHA:54X-linked recessive ocular albinismHP:0040281 - Very frequent64
HP:0000483HP:0000483Astigmatism0GRHL2 CL E G H799772799ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional33
HP:0000483HP:0000483Astigmatism0GRIA1 CL E G H28904571OMIM:6199273
HP:0000483HP:0000483Astigmatism0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000483HP:0000483Astigmatism0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000483HP:0000483Astigmatism0H1-4 CL E G H30084718OMIM:617537Rahman syndrome.
HP:0000483HP:0000483Astigmatism0HARS1 CL E G H30354816ORPHA:231183Usher syndrome type 3HP:0040282 - Frequent
HP:0000483HP:0000483Astigmatism0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0000483HP:0000483Astigmatism0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0000483HP:0000483Astigmatism0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0000483HP:0000483Astigmatism0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000483HP:0000483Astigmatism0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000483HP:0000483Astigmatism0KCNV2 CL E G H16952219698OMIM:610356Retinal cone dystrophy 3B.73
HP:0000483HP:0000483Astigmatism0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 65.2
HP:0000483HP:0000483Astigmatism0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0000483HP:0000483Astigmatism0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0000483HP:0000483Astigmatism0KMT2B CL E G H975715840OMIM:61993411
HP:0000483HP:0000483Astigmatism0KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onsetHP:0040283 - Occasional11
HP:0000483HP:0000483Astigmatism0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndromeHP:0040283 - Occasional196
HP:0000483HP:0000483Astigmatism0LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000483HP:0000483Astigmatism0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040282 - Frequent165
HP:0000483HP:0000483Astigmatism0LOXL3 CL E G H8469513869ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent4
HP:0000483HP:0000483Astigmatism0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0000483HP:0000483Astigmatism0MAG CL E G H40996783ORPHA:459056Autosomal recessive spastic paraplegia type 75HP:0040282 - Frequent4
HP:0000483HP:0000483Astigmatism0MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive.4
HP:0000483HP:0000483Astigmatism0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0000483HP:0000483Astigmatism0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040283 - Occasional11
HP:0000483HP:0000483Astigmatism0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000483HP:0000483Astigmatism0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0000483HP:0000483Astigmatism0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0000483HP:0000483Astigmatism0MIR184 CL E G H40696031555OMIM:614303Edict syndrome.1
HP:0000483HP:0000483Astigmatism0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0000483HP:0000483Astigmatism0MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0000483HP:0000483Astigmatism0NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72.
HP:0000483HP:0000483Astigmatism0NFIX CL E G H47847788OMIM:614753Sotos syndrome 2.40
HP:0000483HP:0000483Astigmatism0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000483HP:0000483Astigmatism0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0000483HP:0000483Astigmatism0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040282 - Frequent544
HP:0000483HP:0000483Astigmatism0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000483HP:0000483Astigmatism0OVOL2 CL E G H5849515804ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional4
HP:0000483HP:0000483Astigmatism0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000483HP:0000483Astigmatism0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0000483HP:0000483Astigmatism0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0000483HP:0000483Astigmatism0PAX2 CL E G H50768616ORPHA:97362Renal hypoplasia, bilateral39
HP:0000483HP:0000483Astigmatism0PBX1 CL E G H50878632ORPHA:97362Renal hypoplasia, bilateral3
HP:0000483HP:0000483Astigmatism0PDZD8 CL E G H11898726974OMIM:620021
HP:0000483HP:0000483Astigmatism0PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 5.77
HP:0000483HP:0000483Astigmatism0PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0000483HP:0000483Astigmatism0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040283 - Occasional12
HP:0000483HP:0000483Astigmatism0PITX2 CL E G H53089005OMIM:180550Ring dermoid of cornea51
HP:0000483HP:0000483Astigmatism0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0000483HP:0000483Astigmatism0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040283 - Occasional35
HP:0000483HP:0000483Astigmatism0POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000483HP:0000483Astigmatism0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000483HP:0000483Astigmatism0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040284 - Very rare10
HP:0000483HP:0000483Astigmatism0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0000483HP:0000483Astigmatism0PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures.6
HP:0000483HP:0000483Astigmatism0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0000483HP:0000483Astigmatism0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0000483HP:0000483Astigmatism0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0000483HP:0000483Astigmatism0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0000483HP:0000483Astigmatism0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0000483HP:0000483Astigmatism0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000483HP:0000483Astigmatism0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000483HP:0000483Astigmatism0RNU4ATAC CL E G H10015168334016ORPHA:1824Lowry-Wood syndromeHP:0040283 - Occasional15
HP:0000483HP:0000483Astigmatism0ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 190
HP:0000483HP:0000483Astigmatism0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0000483HP:0000483Astigmatism0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0000483HP:0000483Astigmatism0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040282 - Frequent60
HP:0000483HP:0000483Astigmatism0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0000483HP:0000483Astigmatism0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0000483HP:0000483Astigmatism0SLC25A24 CL E G H2995720662ORPHA:2095Gorlin-Chaudhry-Moss syndromeHP:0040282 - Frequent
HP:0000483HP:0000483Astigmatism0SLC39A8 CL E G H6411620862OMIM:616721Congenital disorder of glycosylation, type IIN.11
HP:0000483HP:0000483Astigmatism0SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDGHP:0040283 - Occasional11
HP:0000483HP:0000483Astigmatism0SLC4A11 CL E G H8395916438ORPHA:293603Congenital hereditary endothelial dystrophy type II66
HP:0000483HP:0000483Astigmatism0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0000483HP:0000483Astigmatism0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0000483HP:0000483Astigmatism0SMG8 CL E G H5518125551OMIM:619268ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000483HP:0000483Astigmatism0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040282 - Frequent237
HP:0000483HP:0000483Astigmatism0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000483HP:0000483Astigmatism0TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0000483HP:0000483Astigmatism0TBC1D7 CL E G H5125621066OMIM:248000Macrocephaly/megalencephaly syndrome, autosomal recessiveHP:0040283 - Occasional4
HP:0000483HP:0000483Astigmatism0TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndromeHP:0040283 - Occasional52
HP:0000483HP:0000483Astigmatism0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0000483HP:0000483Astigmatism0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0000483HP:0000483Astigmatism0TEAD1 CL E G H700311714OMIM:108985Sveinsson chorioretinal atrophy.1
HP:0000483HP:0000483Astigmatism0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000483HP:0000483Astigmatism0TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type IHP:0040282 - Frequent58
HP:0000483HP:0000483Astigmatism0TGFBI CL E G H704511771ORPHA:98960Thiel-Behnke corneal dystrophyHP:0040283 - Occasional58
HP:0000483HP:0000483Astigmatism0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000483HP:0000483Astigmatism0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism.78
HP:0000483HP:0000483Astigmatism0TRNS2 CL E G H45757498ORPHA:231183Usher syndrome type 3HP:0040282 - Frequent
HP:0000483HP:0000483Astigmatism0TUB CL E G H727512406OMIM:616188Retinal dystrophy and obesity.1
HP:0000483HP:0000483Astigmatism0TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA.146
HP:0000483HP:0000483Astigmatism0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0000483HP:0000483Astigmatism0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome.13
HP:0000483HP:0000483Astigmatism0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted.27
HP:0000483HP:0000483Astigmatism0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0000483HP:0000483Astigmatism0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy.
HP:0000483HP:0000483Astigmatism0VSX1 CL E G H3081312723OMIM:148300Keratoconus 1.47
HP:0000483HP:0000483Astigmatism0VSX1 CL E G H3081312723ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional47
HP:0000483HP:0000483Astigmatism0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome.20
HP:0000483HP:0000483Astigmatism0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040282 - Frequent20
HP:0000483HP:0000483Astigmatism0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0000483HP:0000483Astigmatism0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0000483HP:0000483Astigmatism0ZBTB7A CL E G H5134118078OMIM:619769MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0000483HP:0000483Astigmatism0ZEB1 CL E G H693511642ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional8
HP:0000483HP:0000483Astigmatism0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0000483HP:0000483Astigmatism0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0000483HP:0000483Astigmatism0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0000483HP:0000483Astigmatism0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000483HP:0031791Lenticular astigmatism1 CL E G H
HP:0000483HP:0031789Against the rule astigmatism1 CL E G H
HP:0000483HP:0031788With the rule astigmatism1 CL E G H
HP:0000483HP:0031787Oblique astigmatism1 CL E G H
HP:0000483HP:0031790Mixed astigmatism1AGBL5 CL E G H6050926147OMIM:617023Retinitis pigmentosa 75.2
HP:0000483HP:0500041Myopic astigmatism1ARPC4 CL E G H10093707OMIM:620141
HP:0000483HP:0000484Hyperopic astigmatism1CHST6 CL E G H41666938ORPHA:98969Macular corneal dystrophyHP:0040283 - Occasional129
HP:0000483HP:0500041Myopic astigmatism1CNGA3 CL E G H12612150OMIM:216900Achromatopsia 282
HP:0000483HP:0031792Irregular astigmatism1COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophyHP:0040282 - Frequent129
HP:0000483HP:0500041Myopic astigmatism1COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040283 - Occasional243
HP:0000483HP:0000484Hyperopic astigmatism1GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040282 - Frequent33
HP:0000483HP:0000484Hyperopic astigmatism1GNPTAB CL E G H7915829670OMIM:252600Mucolipidosis III alpha/beta.240
HP:0000483HP:0000484Hyperopic astigmatism1GPR143 CL E G H493520145OMIM:300814Nystagmus 6, congenital, X-linked.64
HP:0000483HP:0500041Myopic astigmatism1KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0000483HP:0500041Myopic astigmatism1MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000483HP:0025612Corneal astigmatism1PITX2 CL E G H53089005OMIM:180550Ring dermoid of cornea51
HP:0000483HP:0000484Hyperopic astigmatism1ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 190
HP:0000483HP:0031792Irregular astigmatism1SLC4A11 CL E G H8395916438ORPHA:293603Congenital hereditary endothelial dystrophy type IIHP:0040283 - Occasional66
HP:0000483HP:0000484Hyperopic astigmatism1TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndromeHP:0040282 - Frequent
HP:0000483HP:0500041Myopic astigmatism1TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000483HP:0500041Myopic astigmatism1VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy


Genes (180) :ADNP AEBP1 AGBL5 ALDH3A2 ANKRD11 AP3D1 APC2 ARCN1 ARHGEF2 ARID1B ARL6 ARPC4 ARSG ASH1L BAP1 BBS1 BBS9 BLOC1S3 BRCA1 BRCA2 BRIP1 C1QBP CACNA1F CAMK2B CAMTA1 CARS1 CC2D2A CCDC28B CEP78 CHD3 CHD4 CHMP1A CHRDL1 CHST14 CHST6 CLDN11 CLDN16 CLDN19 CLRN1 CNGA3 COL11A1 COL17A1 COL1A2 COL25A1 COL4A1 COL8A2 COL9A1 COL9A2 COL9A3 DNAJC21 DPAGT1 DPYD DSE DYRK1A EBF3 EDEM3 EMC1 ERCC2 ERCC3 ERCC4 EXOSC5 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBXW7 FIBP FLNA GALNT2 GATAD2B GLRB GNPTAB GPR143 GRHL2 GRIA1 GTF2E2 GTF2H5 H1-4 HARS1 HDAC4 HK1 IFT172 INTS1 KAT6A KCNV2 KDM5B KIDINS220 KIF11 KMT2B KRAS LMBRD2 LMX1B LOXL3 MAD2L2 MAG MAN2B1 MAP3K7 MAPK8IP3 MBD5 MBTPS2 MIR184 MPLKIP MYO1H NEUROD2 NFIX NIPBL NOG NSD1 OTUD5 OVOL2 P4HTM PACS2 PALB2 PAX2 PBX1 PDZD8 PIEZO2 PIGQ PIGT PITX2 POGZ POLR3GL PPP1R12A PPP2R5D PRKAR1B PRMT7 RAD51 RAD51C RERE RFWD3 RHOA RNF113A RNF2 RNU4ATAC ROBO3 SCUBE3 SETBP1 SETD2 SETD5 SHOC2 SLC25A24 SLC39A8 SLC4A11 SLX4 SMARCAL1 SMG8 STXBP1 TARS1 TBC1D2B TBC1D7 TBCE TCF4 TEAD1 TFE3 TGFBI TNPO2 TRIM37 TRNS2 TUB TYR UBE2T UBE3B USP9X VARS1 VSX1 WAC XRCC2 YY1 ZBTB7A ZEB1 ZEB2 ZFHX4 ZMIZ1

Diseases (152) :ORPHA:404448 ORPHA:536532 OMIM:617023 OMIM:270200 ORPHA:261250 ORPHA:54 ORPHA:821 OMIM:617164 OMIM:617523 OMIM:135900 OMIM:209900 OMIM:620141 ORPHA:231183 OMIM:617796 OMIM:619762 OMIM:615986 OMIM:614077 ORPHA:84 OMIM:617713 OMIM:300600 ORPHA:178333 OMIM:300476 OMIM:617799 OMIM:614756 ORPHA:33364 OMIM:612285 OMIM:618205 OMIM:617159 OMIM:614961 OMIM:309300 OMIM:601776 ORPHA:2953 ORPHA:98969 OMIM:619328 OMIM:248250 OMIM:248190 OMIM:216900 ORPHA:250984 ORPHA:293381 ORPHA:230851 ORPHA:91411 OMIM:175780 ORPHA:98973 OMIM:614134 OMIM:620022 OMIM:617052 ORPHA:86309 ORPHA:293948 ORPHA:1675 ORPHA:268261 ORPHA:464311 OMIM:617330 OMIM:619493 OMIM:616875 ORPHA:480898 OMIM:278760 OMIM:619576 OMIM:609053 OMIM:154700 OMIM:608328 OMIM:620012 ORPHA:500095 ORPHA:1826 OMIM:618885 ORPHA:363686 OMIM:614619 OMIM:252600 OMIM:300814 OMIM:619927 OMIM:617537 OMIM:619797 OMIM:618547 OMIM:619471 OMIM:618571 OMIM:616268 OMIM:610356 OMIM:618109 OMIM:617296 OMIM:152950 OMIM:619934 OMIM:617284 OMIM:600268 OMIM:619694 ORPHA:495818 ORPHA:459056 OMIM:616680 ORPHA:309282 OMIM:618443 OMIM:156200 ORPHA:2273 OMIM:614303 OMIM:619482 OMIM:618374 OMIM:614753 OMIM:122470 OMIM:186500 OMIM:301056 OMIM:618493 OMIM:618067 ORPHA:97362 OMIM:620021 OMIM:108145 OMIM:618548 ORPHA:369837 OMIM:180550 OMIM:616364 ORPHA:468678 OMIM:619234 OMIM:618820 ORPHA:457279 OMIM:619680 OMIM:617157 ORPHA:494344 OMIM:618727 OMIM:619460 ORPHA:1824 OMIM:607313 OMIM:619184 OMIM:616078 OMIM:615761 OMIM:607721 ORPHA:2095 OMIM:616721 ORPHA:468699 ORPHA:293603 OMIM:242900 OMIM:619268 ORPHA:397973 OMIM:248000 ORPHA:2323 OMIM:610954 ORPHA:2896 OMIM:108985 OMIM:301066 ORPHA:98964 ORPHA:98960 OMIM:619556 OMIM:253250 OMIM:616188 OMIM:203100 OMIM:244450 OMIM:300968 ORPHA:480880 OMIM:617802 OMIM:148300 OMIM:616708 ORPHA:284169 ORPHA:506358 OMIM:619769 ORPHA:261552 ORPHA:261537 OMIM:618659
 

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