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:0001120 | HP:0001120 | Abnormality of corneal size | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 72 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 123 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | ADAMTS18 CL E G H | 170692 | 17110 | OMIM:615458 | Microcornea, myopic chorioretinal atrophy, and telecanthus | | | | 8 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | | | | 150 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | ARL2 CL E G H | 402 | 693 | OMIM:619082 | MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1 | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | | | | 4 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | | | | 43 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | | | | 38 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | | | | 36 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | | | | 17 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | | | | 28 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | | | | 34 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | | | | 101 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 101 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | | | | 101 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:193220 | VITREORETINOCHOROIDOPATHY | | | | 182 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | BMP4 CL E G H | 652 | 1071 | ORPHA:139471 | Microphthalmia with brain and digit anomalies | | | | 38 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | | | | 247 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | | | | 2 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | | | | 27 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | | | | 342 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | | | | 9 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | | | | 27 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | | | | 215 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | | | | 193 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | | | | 193 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:899 | Walker-Warburg syndrome | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CRYAA CL E G H | 1409 | 2388 | OMIM:604219 | Cataract 9, multiple types | | | | 33 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CRYAA CL E G H | 1409 | 2388 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 33 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CRYBA4 CL E G H | 1413 | 2396 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 10 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CRYBB1 CL E G H | 1414 | 2397 | OMIM:611544 | Cataract 17, multiple types | | | | 18 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CRYBB1 CL E G H | 1414 | 2397 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 18 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CRYBB2 CL E G H | 1415 | 2398 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 13 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CRYGC CL E G H | 1420 | 2410 | OMIM:604307 | Cataract 2, multiple types | | | | 11 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CRYGC CL E G H | 1420 | 2410 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 11 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CRYGD CL E G H | 1421 | 2411 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 29 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | | | | 57 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | | | | 20 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | | | | 17 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CTDP1 CL E G H | 9150 | 2498 | ORPHA:48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | | | | 17 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:899 | Walker-Warburg syndrome | | | | 108 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | | | | 33 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | | | | 144 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | | | | 106 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 199 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | | | | 199 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 55 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | | | | 58 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | | | | 1361 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | | | | 18 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | | | | 175 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | FKBP14 CL E G H | 55033 | 18625 | ORPHA:300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | | | | 13 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 157 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 157 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:899 | Walker-Warburg syndrome | | | | 157 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 184 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:899 | Walker-Warburg syndrome | | | | 184 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | | | | 8 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | FOXE3 CL E G H | 2301 | 3808 | OMIM:610256 | Anterior segment dysgenesis 2 | | | | 23 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | FOXL2 CL E G H | 668 | 1092 | OMIM:110100 | Blepharophimosis, epicanthus inversus, and ptosis | | | | 92 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | | | | 68 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:116200 | Cataract 1, multiple types | | | | 34 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | GJA8 CL E G H | 2703 | 4281 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 34 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 34 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | GORAB CL E G H | 92344 | 25676 | ORPHA:2078 | Geroderma osteodysplastica | | | | 52 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | GTF2E2 CL E G H | 2961 | 4651 | OMIM:616943 | Trichothiodystrophy 6, nonphotosensitive | | | | 2 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | HMGB3 CL E G H | 3149 | 5004 | OMIM:300915 | Microphthalmia, syndromic 13 | | | | 2 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | | | | 345 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | | | | 119 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | | | | 53 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | | | | 46 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | | | | 660 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | | | | 196 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 136 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:899 | Walker-Warburg syndrome | | | | 136 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | | | | 165 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:251750 | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | | | | 123 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | MAB21L2 CL E G H | 10586 | 6758 | OMIM:615877 | Microphthalmia/coloboma and skeletal dysplasia syndrome | | | | 5 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | | | | 21 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | MAF CL E G H | 4094 | 6776 | OMIM:610202 | Cataract 21, multiple types | | | | 21 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 21 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | MAPRE2 CL E G H | 10982 | 6891 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | | | | 4 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | | | | 4 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | MED25 CL E G H | 81857 | 28845 | OMIM:616449 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | MIR184 CL E G H | 406960 | 31555 | OMIM:614303 | Edict syndrome | | | | 1 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | | | | 127 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | | | | 9 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | | | | 23 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 23 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | NHS CL E G H | 4810 | 7820 | ORPHA:627 | Nance-Horan syndrome | | | | 88 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | NHS CL E G H | 4810 | 7820 | OMIM:302350 | Nance-Horan syndrome | | | | 88 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | OTX2 CL E G H | 5015 | 8522 | OMIM:610125 | Microphthalmia, syndromic 5 | | | | 41 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:604229 | Anterior segment dysgenesis 5, multiple subtypes | | | | 194 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:2334 | Autosomal dominant keratitis | | | | 194 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 7 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | | | | 43 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:269880 | Short syndrome | | | | 43 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | | | | 51 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | PITX3 CL E G H | 5309 | 9006 | OMIM:107250 | Anterior segment dysgenesis 1 | | | | 6 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | PLK4 CL E G H | 10733 | 11397 | OMIM:616171 | Microcephaly and chorioretinopathy, autosomal recessive, 2 | | | | 11 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | | | | 105 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | | | | 105 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 180 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | | | | 180 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:899 | Walker-Warburg syndrome | | | | 180 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | POMGNT2 CL E G H | 84892 | 25902 | ORPHA:899 | Walker-Warburg syndrome | | | | 33 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 18 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:899 | Walker-Warburg syndrome | | | | 18 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 213 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 213 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:899 | Walker-Warburg syndrome | | | | 213 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 221 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 221 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:899 | Walker-Warburg syndrome | | | | 221 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | PPP2CA CL E G H | 5515 | 9299 | OMIM:618354 | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | | | | 2 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | PRDM5 CL E G H | 11107 | 9349 | OMIM:614170 | Brittle cornea syndrome 2 | | | | 58 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | PRSS56 CL E G H | 646960 | 39433 | OMIM:613517 | Microphthalmia, isolated 6 | | | | 11 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | PXDN CL E G H | 7837 | 14966 | OMIM:269400 | Corneal opacification with other ocular anomalies | | | | 22 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | PYCR1 CL E G H | 5831 | 9721 | ORPHA:2078 | Geroderma osteodysplastica | | | | 53 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | RAB18 CL E G H | 22931 | 14244 | ORPHA:2510 | Micro syndrome | | | | 85 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | | | | 85 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:2510 | Micro syndrome | | | | 90 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:600118 | Warburg micro syndrome 1 | | | | 90 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:2510 | Micro syndrome | | | | 135 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | | | | 135 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | | | | 150 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | RBP4 CL E G H | 5950 | 9922 | OMIM:615147 | Retinal dystrophy, iris coloboma, and comedogenic acne syndrome | | | | 8 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | | | | 109 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | | | | 167 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | RXYLT1 CL E G H | 10329 | 13530 | ORPHA:899 | Walker-Warburg syndrome | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | | | | 80 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | SLC16A12 CL E G H | 387700 | 23094 | OMIM:612018 | CATARACT 47; CTRCT47 | | | | 5 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TBC1D20 CL E G H | 128637 | 16133 | ORPHA:2510 | Micro syndrome | | | | 15 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | | | | 22 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | | | | 22 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | | | | 5 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TBX22 CL E G H | 50945 | 11600 | ORPHA:921 | Abruzzo-Erickson syndrome | | | | 28 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | | | | 76 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | | | | 31 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TEK CL E G H | 7010 | 11724 | OMIM:617272 | Glaucoma 3, primary congenital, E | | | | 78 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TENM3 CL E G H | 55714 | 29944 | OMIM:615145 | Microphthalmia, isolated, with coloboma 9 | | | | 12 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | | | | 12 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:268130 | Revesz syndrome | | | | 60 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | | | | 4 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | | | | 33 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | | | | 82 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | | | | 166 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TUBB CL E G H | 203068 | 20778 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | | | | 14 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | | | | 14 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | | | | 2 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | UBE3B CL E G H | 89910 | 13478 | ORPHA:2707 | Oculocerebrofacial syndrome, Kaufman type | | | | 13 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | 12 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | | | | 362 | | |
HP:0001120 | HP:0001120 | Abnormality of corneal size | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0001120 | HP:0009915 | Corneal asymmetry | 1 | CL E G H | | | | | | | | | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040283 - Occasional | | | 72 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040283 - Occasional | | | 123 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | ADAMTS18 CL E G H | 170692 | 17110 | OMIM:615458 | Microcornea, myopic chorioretinal atrophy, and telecanthus | . | | | 8 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | ARL2 CL E G H | 402 | 693 | OMIM:619082 | MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1 | | | | | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | . | | | 4 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 101 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 101 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | . | | | 101 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | HP:0040281 - Very frequent | | | 101 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | BEST1 CL E G H | 7439 | 12703 | OMIM:193220 | VITREORETINOCHOROIDOPATHY | . | | | 182 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | BMP4 CL E G H | 652 | 1071 | ORPHA:139471 | Microphthalmia with brain and digit anomalies | HP:0040282 - Frequent | | | 38 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 247 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | . | | | 2 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | . | | | 27 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 342 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | | | | 9 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | | | 27 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | . | | | 215 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | 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:0001120 | HP:0000482 | Microcornea | 1 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 193 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | CRPPA CL E G H | 729920 | 37276 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | CRYAA CL E G H | 1409 | 2388 | OMIM:604219 | Cataract 9, multiple types | HP:0040283 - Occasional | | | 33 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | CRYAA CL E G H | 1409 | 2388 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | CRYBA4 CL E G H | 1413 | 2396 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | CRYBB1 CL E G H | 1414 | 2397 | OMIM:611544 | Cataract 17, multiple types | HP:0040283 - Occasional | | | 18 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | CRYBB1 CL E G H | 1414 | 2397 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040281 - Very frequent | | | 18 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | CRYBB2 CL E G H | 1415 | 2398 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | CRYGC CL E G H | 1420 | 2410 | OMIM:604307 | Cataract 2, multiple types | HP:0040283 - Occasional | | | 11 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | CRYGC CL E G H | 1420 | 2410 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | CRYGD CL E G H | 1421 | 2411 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040283 - Occasional | | | 20 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | . | | | 17 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | CTDP1 CL E G H | 9150 | 2498 | ORPHA:48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | HP:0040284 - Very rare | | | | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | DAG1 CL E G H | 1605 | 2666 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 108 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | HP:0040283 - Occasional | | | 51 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | HP:0040283 - Occasional | | | 106 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040284 - Very rare | | | 199 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040284 - Very rare | | | 55 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | HP:0040281 - Very frequent | | | 58 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | HP:0040281 - Very frequent | | | 1361 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | HP:0040283 - Occasional | | | 62 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | HP:0040281 - Very frequent | | | 175 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | FKBP14 CL E G H | 55033 | 18625 | ORPHA:300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | HP:0040284 - Very rare | | | 13 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 157 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 157 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | FKTN CL E G H | 2218 | 3622 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 184 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | FOXE3 CL E G H | 2301 | 3808 | OMIM:610256 | Anterior segment dysgenesis 2 | . | | | 23 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | FOXL2 CL E G H | 668 | 1092 | OMIM:110100 | Blepharophimosis, epicanthus inversus, and ptosis | . | | | 92 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040281 - Very frequent | | | 68 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | . | | | 68 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | . | | | 68 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | GJA8 CL E G H | 2703 | 4281 | OMIM:116200 | Cataract 1, multiple types | HP:0040283 - Occasional | | | 34 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | GJA8 CL E G H | 2703 | 4281 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 34 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | GORAB CL E G H | 92344 | 25676 | ORPHA:2078 | Geroderma osteodysplastica | HP:0040283 - Occasional | | | 52 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | GTF2E2 CL E G H | 2961 | 4651 | OMIM:616943 | Trichothiodystrophy 6, nonphotosensitive | HP:0040283 - Occasional | | | 2 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | HMGB3 CL E G H | 3149 | 5004 | OMIM:300915 | Microphthalmia, syndromic 13 | . | | | 2 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | . | | | 2 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | . | | | 345 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 119 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | HP:0040283 - Occasional | | | 53 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | . | | | 46 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | . | | | | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | . | | | 196 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 136 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | . | | | 165 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | LTBP2 CL E G H | 4053 | 6715 | OMIM:251750 | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | . | | | 123 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | MAB21L2 CL E G H | 10586 | 6758 | OMIM:615877 | Microphthalmia/coloboma and skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | MAF CL E G H | 4094 | 6776 | OMIM:610202 | Cataract 21, multiple types | . | | | 21 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | MAF CL E G H | 4094 | 6776 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | MAPRE2 CL E G H | 10982 | 6891 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 4 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | . | | | 4 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | MED25 CL E G H | 81857 | 28845 | OMIM:616449 | Basel-Vanagaite-Smirin-Yosef syndrome | . | | | 43 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | MIR184 CL E G H | 406960 | 31555 | OMIM:614303 | Edict syndrome | . | | | 1 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | HP:0040283 - Occasional | | | 9 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 23 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 23 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | NHS CL E G H | 4810 | 7820 | ORPHA:627 | Nance-Horan syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | NHS CL E G H | 4810 | 7820 | OMIM:302350 | Nance-Horan syndrome | . | | | 88 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 494 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 118 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | OTX2 CL E G H | 5015 | 8522 | OMIM:610125 | Microphthalmia, syndromic 5 | . | | | 41 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | PAX6 CL E G H | 5080 | 8620 | OMIM:604229 | Anterior segment dysgenesis 5, multiple subtypes | . | | | 194 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | PAX6 CL E G H | 5080 | 8620 | ORPHA:2334 | Autosomal dominant keratitis | HP:0040283 - Occasional | | | 194 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:269880 | Short syndrome | . | | | 43 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | . | | | 51 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | . | | | 51 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | PITX3 CL E G H | 5309 | 9006 | OMIM:107250 | Anterior segment dysgenesis 1 | . | | | 6 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | PLK4 CL E G H | 10733 | 11397 | OMIM:616171 | Microcephaly and chorioretinopathy, autosomal recessive, 2 | . | | | 11 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | | | | 105 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040282 - Frequent | | | 105 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 180 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | . | | | 180 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 180 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | POMGNT2 CL E G H | 84892 | 25902 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 18 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | POMK CL E G H | 84197 | 26267 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 213 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 213 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 221 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 221 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | PPP2CA CL E G H | 5515 | 9299 | OMIM:618354 | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | . | | | 2 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | PRDM5 CL E G H | 11107 | 9349 | OMIM:614170 | Brittle cornea syndrome 2 | HP:0040283 - Occasional | | | 58 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | PRSS56 CL E G H | 646960 | 39433 | OMIM:613517 | Microphthalmia, isolated 6 | HP:0040283 - Occasional | | | 11 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | PXDN CL E G H | 7837 | 14966 | OMIM:269400 | Corneal opacification with other ocular anomalies | HP:0040283 - Occasional | | | 22 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | PYCR1 CL E G H | 5831 | 9721 | ORPHA:2078 | Geroderma osteodysplastica | HP:0040283 - Occasional | | | 53 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | RAB18 CL E G H | 22931 | 14244 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | . | | | 85 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:600118 | Warburg micro syndrome 1 | . | | | 90 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | . | | | 135 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | RBP4 CL E G H | 5950 | 9922 | OMIM:615147 | Retinal dystrophy, iris coloboma, and comedogenic acne syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 109 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 167 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | HP:0040282 - Frequent | | | | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | RXYLT1 CL E G H | 10329 | 13530 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | HP:0040282 - Frequent | | | 80 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | SLC16A12 CL E G H | 387700 | 23094 | OMIM:612018 | CATARACT 47; CTRCT47 | | | | 5 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | TBC1D20 CL E G H | 128637 | 16133 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 15 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | | | | 22 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | . | | | 5 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | TBX22 CL E G H | 50945 | 11600 | ORPHA:921 | Abruzzo-Erickson syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 76 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | TEK CL E G H | 7010 | 11724 | OMIM:617272 | Glaucoma 3, primary congenital, E | . | | | 78 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | TENM3 CL E G H | 55714 | 29944 | OMIM:615145 | Microphthalmia, isolated, with coloboma 9 | . | | | 12 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | TINF2 CL E G H | 26277 | 11824 | OMIM:268130 | Revesz syndrome | . | | | 60 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | TUBB CL E G H | 203068 | 20778 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 14 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | HP:0040283 - Occasional | | | 14 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | . | | | 13 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | UBE3B CL E G H | 89910 | 13478 | ORPHA:2707 | Oculocerebrofacial syndrome, Kaufman type | HP:0040282 - Frequent | | | 13 | | |
HP:0001120 | HP:0000485 | Megalocornea | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | . | | | 362 | | |
HP:0001120 | HP:0000482 | Microcornea | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |