Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040283 - Occasional | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | AGBL5 CL E G H | 60509 | 26147 | OMIM:617023 | Retinitis pigmentosa 75 | | | | 2 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ALDH3A2 CL E G H | 224 | 403 | OMIM:270200 | Sjogren-Larsson syndrome | | | | 87 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:261250 | 16q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 102 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | AP3D1 CL E G H | 8943 | 568 | ORPHA:54 | X-linked recessive ocular albinism | HP:0040281 - Very frequent | | | 1 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | . | | | 3 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | . | | | 1 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 29 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ARPC4 CL E G H | 10093 | 707 | OMIM:620141 | | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ARSG CL E G H | 22901 | 24102 | ORPHA:231183 | Usher syndrome type 3 | HP:0040282 - Frequent | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 114 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | . | | | 42 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 5769 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 7642 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1086 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | C1QBP CL E G H | 708 | 1243 | OMIM:617713 | Combined oxidative phosphorylation deficiency 33 | . | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CACNA1F CL E G H | 778 | 1393 | OMIM:300600 | Aland island eye disease | . | | | 58 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CACNA1F CL E G H | 778 | 1393 | ORPHA:178333 | Ã…land Islands eye disease | HP:0040281 - Very frequent | | | 58 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CACNA1F CL E G H | 778 | 1393 | OMIM:300476 | Cone-Rod dystrophy, X-linked, 3 | HP:0040283 - Occasional | | | 58 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612285 | Joubert syndrome 9 | . | | | 247 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 4 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CEP78 CL E G H | 84131 | 25740 | ORPHA:231183 | Usher syndrome type 3 | HP:0040282 - Frequent | | | 9 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CHD3 CL E G H | 1107 | 1918 | OMIM:618205 | Snijders blok-campeau syndrome | . | | | 2 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CHD4 CL E G H | 1108 | 1919 | OMIM:617159 | Sifrim-Hitz-Weiss syndrome | . | | | 14 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | . | | | 19 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | . | | | 9 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | | | | 27 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CHST6 CL E G H | 4166 | 6938 | ORPHA:98969 | Macular corneal dystrophy | | | | 129 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CLDN11 CL E G H | 5010 | 8514 | OMIM:619328 | Leukodystrophy, hypomyelinating, 22 | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CLDN16 CL E G H | 10686 | 2037 | OMIM:248250 | Hypomagnesemia 3, renal | . | | | 58 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CLDN19 CL E G H | 149461 | 2040 | OMIM:248190 | Hypomagnesemia 5, renal, with or without ocular involvement | . | | | 42 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:231183 | Usher syndrome type 3 | HP:0040282 - Frequent | | | 60 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | CNGA3 CL E G H | 1261 | 2150 | OMIM:216900 | Achromatopsia 2 | | | | 82 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 215 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:293381 | Epithelial recurrent erosion dystrophy | | | | 129 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | | | | 243 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | HP:0040284 - Very rare | | | 193 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | COL9A1 CL E G H | 1297 | 2217 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614134 | STICKLER SYNDROME, TYPE IV; STL4 | | | | 110 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | COL9A2 CL E G H | 1298 | 2218 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | COL9A3 CL E G H | 1299 | 2219 | OMIM:620022 | | | | | 137 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | COL9A3 CL E G H | 1299 | 2219 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 137 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | . | | | 5 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040283 - Occasional | | | 38 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:293948 | 1p21.3 microdeletion syndrome | HP:0040281 - Very frequent | | | 144 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040284 - Very rare | | | 134 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040283 - Occasional | | | 134 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | EDEM3 CL E G H | 80267 | 16787 | OMIM:619493 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | EMC1 CL E G H | 23065 | 28957 | OMIM:616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | | | | 5 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | EMC1 CL E G H | 23065 | 28957 | ORPHA:480898 | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 158 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:278760 | Xeroderma pigmentosum, complementation group F | HP:0040283 - Occasional | | | 158 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 340 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 410 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 147 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 87 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 157 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | . | | | 157 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 53 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 107 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | | | | 1361 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | FBXW7 CL E G H | 55294 | 16712 | OMIM:620012 | | | | | 22 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040283 - Occasional | | | 493 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | GLRB CL E G H | 2743 | 4329 | OMIM:614619 | Hyperekplexia 2 | . | | | 46 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252600 | Mucolipidosis III alpha/beta | | | | 240 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | GPR143 CL E G H | 4935 | 20145 | OMIM:300814 | Nystagmus 6, congenital, X-linked | | | | 64 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | GPR143 CL E G H | 4935 | 20145 | ORPHA:54 | X-linked recessive ocular albinism | HP:0040281 - Very frequent | | | 64 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | GRHL2 CL E G H | 79977 | 2799 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040283 - Occasional | | | 33 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | GRIA1 CL E G H | 2890 | 4571 | OMIM:619927 | | | | | 3 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | H1-4 CL E G H | 3008 | 4718 | OMIM:617537 | Rahman syndrome | . | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:231183 | Usher syndrome type 3 | HP:0040282 - Frequent | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | KCNV2 CL E G H | 169522 | 19698 | OMIM:610356 | Retinal cone dystrophy 3B | . | | | 73 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | . | | | 2 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:617296 | SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO | | | | 4 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | . | | | 46 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:619934 | | | | | 11 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:617284 | Dystonia 28, childhood-onset | HP:0040283 - Occasional | | | 11 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | LMBRD2 CL E G H | 92255 | 25287 | OMIM:619694 | DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040282 - Frequent | | | 165 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | LOXL3 CL E G H | 84695 | 13869 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | MAG CL E G H | 4099 | 6783 | ORPHA:459056 | Autosomal recessive spastic paraplegia type 75 | HP:0040282 - Frequent | | | 4 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | MAG CL E G H | 4099 | 6783 | OMIM:616680 | Spastic paraplegia 75, autosomal recessive | . | | | 4 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040283 - Occasional | | | 11 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | . | | | 252 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | MIR184 CL E G H | 406960 | 31555 | OMIM:614303 | Edict syndrome | . | | | 1 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | NEUROD2 CL E G H | 4761 | 7763 | OMIM:618374 | Epileptic encephalopathy, early infantile, 72 | . | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:614753 | Sotos syndrome 2 | . | | | 40 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 544 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | OVOL2 CL E G H | 58495 | 15804 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040283 - Occasional | | | 4 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | . | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1349 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 39 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | PBX1 CL E G H | 5087 | 8632 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 3 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | PDZD8 CL E G H | 118987 | 26974 | OMIM:620021 | | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:108145 | Arthrogryposis, distal, type 5 | . | | | 77 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | PIGQ CL E G H | 9091 | 14135 | OMIM:618548 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4 | | | | 3 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:180550 | Ring dermoid of cornea | | | | 51 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | . | | | 35 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | HP:0040284 - Very rare | | | 10 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | PRMT7 CL E G H | 54496 | 25557 | OMIM:617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | . | | | 6 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 9 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 391 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | RERE CL E G H | 473 | 9965 | ORPHA:494344 | RERE-related neurodevelopmental syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | RHOA CL E G H | 387 | 667 | OMIM:618727 | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB | | | | 8 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:1824 | Lowry-Wood syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ROBO3 CL E G H | 64221 | 13433 | OMIM:607313 | Gaze palsy, familial horizontal, with progressive scoliosis, 1 | | | | 90 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | SCUBE3 CL E G H | 222663 | 13655 | OMIM:619184 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2 | | | | 1 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | | | | 143 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | SETD5 CL E G H | 55209 | 25566 | OMIM:615761 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 | | | | 43 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2095 | Gorlin-Chaudhry-Moss syndrome | HP:0040282 - Frequent | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | SLC39A8 CL E G H | 64116 | 20862 | OMIM:616721 | Congenital disorder of glycosylation, type IIN | . | | | 11 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | HP:0040283 - Occasional | | | 11 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | SLC4A11 CL E G H | 83959 | 16438 | ORPHA:293603 | Congenital hereditary endothelial dystrophy type II | | | | 66 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 274 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | SMG8 CL E G H | 55181 | 25551 | OMIM:619268 | ALZAHRANI-KUWAHARA SYNDROME; ALKUS | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040282 - Frequent | | | 237 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | TBC1D7 CL E G H | 51256 | 21066 | OMIM:248000 | Macrocephaly/megalencephaly syndrome, autosomal recessive | HP:0040283 - Occasional | | | 4 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:2323 | Sanjad-Sakati syndrome | HP:0040283 - Occasional | | | 52 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | . | | | 241 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040281 - Very frequent | | | 241 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | TEAD1 CL E G H | 7003 | 11714 | OMIM:108985 | Sveinsson chorioretinal atrophy | . | | | 1 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98964 | Lattice corneal dystrophy type I | HP:0040282 - Frequent | | | 58 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98960 | Thiel-Behnke corneal dystrophy | HP:0040283 - Occasional | | | 58 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | TNPO2 CL E G H | 30000 | 19998 | OMIM:619556 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | . | | | 78 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:231183 | Usher syndrome type 3 | HP:0040282 - Frequent | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | TUB CL E G H | 7275 | 12406 | OMIM:616188 | Retinal dystrophy and obesity | . | | | 1 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | TYR CL E G H | 7299 | 12442 | OMIM:203100 | Albinism, oculocutaneous, type IA | . | | | 146 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 2 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | . | | | 13 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | . | | | 27 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | HP:0040283 - Occasional | | | 27 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | . | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | VSX1 CL E G H | 30813 | 12723 | OMIM:148300 | Keratoconus 1 | . | | | 47 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | VSX1 CL E G H | 30813 | 12723 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040283 - Occasional | | | 47 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | . | | | 20 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | HP:0040282 - Frequent | | | 20 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 125 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ZBTB7A CL E G H | 51341 | 18078 | OMIM:619769 | MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ZEB1 CL E G H | 6935 | 11642 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040283 - Occasional | | | 8 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040283 - Occasional | | | 362 | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |
HP:0000483 | HP:0000483 | Astigmatism | 0 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |
HP:0000483 | HP:0031791 | Lenticular astigmatism | 1 | CL E G H | | | | | | | | | | |
HP:0000483 | HP:0031789 | Against the rule astigmatism | 1 | CL E G H | | | | | | | | | | |
HP:0000483 | HP:0031788 | With the rule astigmatism | 1 | CL E G H | | | | | | | | | | |
HP:0000483 | HP:0031787 | Oblique astigmatism | 1 | CL E G H | | | | | | | | | | |
HP:0000483 | HP:0031790 | Mixed astigmatism | 1 | AGBL5 CL E G H | 60509 | 26147 | OMIM:617023 | Retinitis pigmentosa 75 | . | | | 2 | | |
HP:0000483 | HP:0500041 | Myopic astigmatism | 1 | ARPC4 CL E G H | 10093 | 707 | OMIM:620141 | | | | | | | |
HP:0000483 | HP:0000484 | Hyperopic astigmatism | 1 | CHST6 CL E G H | 4166 | 6938 | ORPHA:98969 | Macular corneal dystrophy | HP:0040283 - Occasional | | | 129 | | |
HP:0000483 | HP:0500041 | Myopic astigmatism | 1 | CNGA3 CL E G H | 1261 | 2150 | OMIM:216900 | Achromatopsia 2 | | | | 82 | | |
HP:0000483 | HP:0031792 | Irregular astigmatism | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:293381 | Epithelial recurrent erosion dystrophy | HP:0040282 - Frequent | | | 129 | | |
HP:0000483 | HP:0500041 | Myopic astigmatism | 1 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 243 | | |
HP:0000483 | HP:0000484 | Hyperopic astigmatism | 1 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000483 | HP:0000484 | Hyperopic astigmatism | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252600 | Mucolipidosis III alpha/beta | . | | | 240 | | |
HP:0000483 | HP:0000484 | Hyperopic astigmatism | 1 | GPR143 CL E G H | 4935 | 20145 | OMIM:300814 | Nystagmus 6, congenital, X-linked | . | | | 64 | | |
HP:0000483 | HP:0500041 | Myopic astigmatism | 1 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | . | | | 46 | | |
HP:0000483 | HP:0500041 | Myopic astigmatism | 1 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0000483 | HP:0025612 | Corneal astigmatism | 1 | PITX2 CL E G H | 5308 | 9005 | OMIM:180550 | Ring dermoid of cornea | | | | 51 | | |
HP:0000483 | HP:0000484 | Hyperopic astigmatism | 1 | ROBO3 CL E G H | 64221 | 13433 | OMIM:607313 | Gaze palsy, familial horizontal, with progressive scoliosis, 1 | | | | 90 | | |
HP:0000483 | HP:0031792 | Irregular astigmatism | 1 | SLC4A11 CL E G H | 83959 | 16438 | ORPHA:293603 | Congenital hereditary endothelial dystrophy type II | HP:0040283 - Occasional | | | 66 | | |
HP:0000483 | HP:0000484 | Hyperopic astigmatism | 1 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | HP:0040282 - Frequent | | | | | |
HP:0000483 | HP:0500041 | Myopic astigmatism | 1 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0000483 | HP:0500041 | Myopic astigmatism | 1 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | | | | | | |