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:0000540 | HP:0000540 | Hypermetropia | 0 | ADGRL1 CL E G H | 22859 | 20973 | OMIM:620065 | | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | . | | | 47 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | ALDH1A3 CL E G H | 220 | 409 | ORPHA:35612 | Nanophthalmos | | | | 10 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | ARSG CL E G H | 22901 | 24102 | ORPHA:231183 | Usher syndrome type 3 | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | ATF6 CL E G H | 22926 | 791 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 10 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:618012 | Epileptic encephalopathy, infantile or early childhood, 3 | . | | | 3 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | | | | 29 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | . | | | 3 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:611809 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB | | | | 182 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:35612 | Nanophthalmos | | | | 182 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | . | | | 42 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | . | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CABP4 CL E G H | 57010 | 1386 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 94 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CACNA1F CL E G H | 778 | 1393 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 58 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:618087 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | . | | | 32 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CACNA2D4 CL E G H | 93589 | 20202 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 129 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | | | | 3 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:231169 | Usher syndrome type 1 | | | | 636 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CENPT CL E G H | 80152 | 25787 | OMIM:618702 | SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CEP78 CL E G H | 84131 | 25740 | ORPHA:231183 | Usher syndrome type 3 | | | | 9 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | . | | | 16 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CHD3 CL E G H | 1107 | 1918 | OMIM:618205 | Snijders blok-campeau syndrome | . | | | 2 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | . | | | 19 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CIB2 CL E G H | 10518 | 24579 | ORPHA:231169 | Usher syndrome type 1 | | | | 15 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CLDN11 CL E G H | 5010 | 8514 | OMIM:619328 | Leukodystrophy, hypomyelinating, 22 | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CLDN16 CL E G H | 10686 | 2037 | OMIM:248250 | Hypomagnesemia 3, renal | . | | | 58 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:231183 | Usher syndrome type 3 | | | | 60 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 82 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 194 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | | | | 61 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CNOT3 CL E G H | 4849 | 7879 | OMIM:618672 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | HP:0040284 - Very rare | | | 222 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:618343 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | . | | | 749 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 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:0000540 | HP:0000540 | Hypermetropia | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:613835 | Leber congenital amaurosis 8 | | | | 156 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:35612 | Nanophthalmos | | | | 156 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:172870 | Pigmented paravenous chorioretinal atrophy | . | | | 156 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:600105 | Retinitis pigmentosa 12 | | | | 156 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040283 - Occasional | | | 291 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CSGALNACT1 CL E G H | 55790 | 24290 | OMIM:618870 | SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CSTA CL E G H | 1475 | 2481 | ORPHA:263534 | Acral peeling skin syndrome | | | | 4 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040282 - Frequent | | | 20 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CTCF CL E G H | 10664 | 13723 | OMIM:615502 | Mental retardation, autosomal dominant 21 | | | | 20 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:615075 | Neurodevelopmental disorder with spastic diplegia and visual defects | HP:0040284 - Very rare | | | 88 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:404473 | Severe intellectual disability-progressive spastic diplegia syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | . | | | 5 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | . | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040283 - Occasional | | | 134 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040283 - Occasional | | | 134 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040284 - Very rare | | | 223 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | EMC1 CL E G H | 23065 | 28957 | OMIM:616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | | | | 5 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040283 - Occasional | | | 250 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | . | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 199 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 55 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | ESPN CL E G H | 83715 | 13281 | ORPHA:231169 | Usher syndrome type 1 | | | | 33 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | FAM111A CL E G H | 63901 | 24725 | OMIM:127000 | Kenny-caffey syndrome, type 2 | . | | | 8 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | FBXO11 CL E G H | 80204 | 13590 | OMIM:618089 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | . | | | 7 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | . | | | 62 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | FGF3 CL E G H | 2248 | 3681 | ORPHA:90024 | Deafness with labyrinthine aplasia, microtia, and microdontia | | | | 18 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | . | | | 184 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:610883 | Potocki-Lupski syndrome | | | | 332 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | FOXL2 CL E G H | 668 | 1092 | OMIM:110100 | Blepharophimosis, epicanthus inversus, and ptosis | . | | | 92 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | | | | 10 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | GATAD2B CL E G H | 57459 | 30778 | OMIM:615074 | Mental retardation, autosomal dominant 18 | . | | | 33 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | GNAT1 CL E G H | 2779 | 4393 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 39 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | GNAT2 CL E G H | 2780 | 4394 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 19 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | GNB3 CL E G H | 2784 | 4400 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 5 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | GNB3 CL E G H | 2784 | 4400 | OMIM:617024 | Night blindness, congenital stationary, type 1H | HP:0040283 - Occasional | | | 5 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | GPR179 CL E G H | 440435 | 31371 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 124 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | GRK1 CL E G H | 6011 | 10013 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 4 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | GRM6 CL E G H | 2916 | 4598 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 63 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:231183 | Usher syndrome type 3 | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | . | | | 38 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | | | | 345 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 11 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 4 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | . | | | 4 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | IQSEC2 CL E G H | 23096 | 29059 | OMIM:309530 | Mental retardation, X-linked 1 | . | | | 119 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040282 - Frequent | | | 283 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040282 - Frequent | | | 283 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | KAT8 CL E G H | 84148 | 17933 | OMIM:618974 | LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | | | | 1 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | KERA CL E G H | 11081 | 6309 | OMIM:217300 | Cornea plana 2 | . | | | 8 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619476 | JOUBERT SYNDROME 38; JBTS38 | | | | 4 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:617296 | SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO | | | | 4 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | KIDINS220 CL E G H | 57498 | 29508 | ORPHA:521390 | Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | . | | | 46 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:619934 | | | | | 11 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | KMT2C CL E G H | 58508 | 13726 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040284 - Very rare | | | 99 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040283 - Occasional | | | 110 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040283 - Occasional | | | 173 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | LAMA1 CL E G H | 284217 | 6481 | ORPHA:370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | LCA5 CL E G H | 167691 | 31923 | OMIM:604537 | Leber congenital amaurosis 5 | | | | 70 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | LMBRD2 CL E G H | 92255 | 25287 | OMIM:619694 | DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | LRIT3 CL E G H | 345193 | 24783 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 54 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:251750 | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | HP:0040283 - Occasional | | | 123 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | MAG CL E G H | 4099 | 6783 | ORPHA:459056 | Autosomal recessive spastic paraplegia type 75 | HP:0040282 - Frequent | | | 4 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | MAG CL E G H | 4099 | 6783 | OMIM:616680 | Spastic paraplegia 75, autosomal recessive | . | | | 4 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | . | | | 63 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040282 - Frequent | | | 136 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | MARK3 CL E G H | 4140 | 6897 | OMIM:618283 | Visual impairment and progressive phthisis bulbi | . | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | . | | | 252 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | | | | 228 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | HP:0040283 - Occasional | | | 74 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | MFRP CL E G H | 83552 | 18121 | OMIM:611040 | Microphthalmia, isolated 5 | . | | | 26 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | MFRP CL E G H | 83552 | 18121 | ORPHA:35612 | Nanophthalmos | | | | 26 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | . | | | 5 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | MSX2 CL E G H | 4488 | 7392 | OMIM:604757 | Craniosynostosis 2 | HP:0040283 - Occasional | | | 45 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231169 | Usher syndrome type 1 | | | | 516 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:614800 | Short stature, optic nerve atrophy, and pelger-huet anomaly | HP:0040283 - Occasional | | | 25 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | . | | | 101 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:447980 | 19p13.3 microduplication syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:614753 | Sotos syndrome 2 | . | | | 40 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | . | | | 15 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | | | | 22 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | NOG CL E G H | 9241 | 7866 | OMIM:184460 | Stapes ankylosis with broad thumb and toes | HP:0040281 - Very frequent | | | 22 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | . | | | 1 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | NR2F1 CL E G H | 7025 | 7975 | ORPHA:401777 | Optic atrophy-intellectual disability syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 544 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | NYX CL E G H | 60506 | 8082 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 42 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | OGT CL E G H | 8473 | 8127 | OMIM:300997 | Mental retardation, X-linked 106 | | | | 4 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:35612 | Nanophthalmos | | | | 41 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | . | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 39 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PBX1 CL E G H | 5087 | 8632 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 3 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PCDH15 CL E G H | 65217 | 14674 | ORPHA:231169 | Usher syndrome type 1 | | | | 352 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | . | | | 531 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | HP:0040283 - Occasional | | | 113 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PDE6B CL E G H | 5158 | 8786 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 126 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PDE6C CL E G H | 5146 | 8787 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 80 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PDE6H CL E G H | 5149 | 8790 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 14 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:601812 | Premature aging syndrome, Penttinen type | . | | | 28 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 20 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PHIP CL E G H | 55023 | 15673 | OMIM:617991 | Developmental delay, intellectual disability, obesity, and dysmorphic features | . | | | 11 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:108145 | Arthrogryposis, distal, type 5 | HP:0040283 - Occasional | | | 77 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 84 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | . | | | 12 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040283 - Occasional | | | 105 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | . | | | 35 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040282 - Frequent | | | 35 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | . | | | 221 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PPM1D CL E G H | 8493 | 9277 | OMIM:617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | . | | | 22 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | . | | | 28 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | | | | 148 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:300661 | Phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PRSS56 CL E G H | 646960 | 39433 | OMIM:613517 | Microphthalmia, isolated 6 | | | | 11 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PRSS56 CL E G H | 646960 | 39433 | ORPHA:35612 | Nanophthalmos | | | | 11 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | RAB11B CL E G H | 9230 | 9761 | OMIM:617807 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | . | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | RAD50 CL E G H | 10111 | 9816 | OMIM:613078 | NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD | | | | 789 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:1713 | 17p11.2 microduplication syndrome | | | | 150 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | RAX CL E G H | 30062 | 18662 | ORPHA:35612 | Nanophthalmos | | | | 43 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | | | | 16 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 107 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | | | | 37 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | RORA CL E G H | 6095 | 10258 | OMIM:618060 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA | | | | 1 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 200 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | RPGRIP1 CL E G H | 57096 | 13436 | OMIM:613826 | Leber congenital amaurosis 6 | | | | 109 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | RS1 CL E G H | 6247 | 10457 | OMIM:312700 | Retinoschisis 1, X-linked, juvenile | | | | 148 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 32 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040282 - Frequent | | | 34 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | | | | 143 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SETD5 CL E G H | 55209 | 25566 | ORPHA:404440 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | HP:0040283 - Occasional | | | 43 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | HP:0040283 - Occasional | | | 53 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SIX6 CL E G H | 4990 | 10892 | ORPHA:35612 | Nanophthalmos | | | | 20 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | | | | 150 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SLC24A1 CL E G H | 9187 | 10975 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 66 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | HP:0040283 - Occasional | | | 11 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SLC6A6 CL E G H | 6533 | 11052 | OMIM:145350 | Hypotaurinemic retinal degeneration and cardiomyopathy | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | . | | | 122 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | . | | | 504 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | | | | 504 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SOBP CL E G H | 55084 | 29256 | OMIM:613671 | Mental retardation, anterior maxillary protrusion, and strabismus | HP:0040283 - Occasional | | | 29 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:35612 | Nanophthalmos | | | | 33 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | | | | 4 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:619595 | DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA | | | | 138 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:618484 | Arthrogryposis multiplex congenita, Myogenic type | . | | | 1129 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | TBC1D23 CL E G H | 55773 | 25622 | OMIM:617695 | Pontocerebellar hypoplasia, type 11 | . | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | TCTN2 CL E G H | 79867 | 25774 | OMIM:616654 | Joubert syndrome 24 | . | | | 76 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | TGM5 CL E G H | 9333 | 11781 | ORPHA:263534 | Acral peeling skin syndrome | | | | 44 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | TMEM98 CL E G H | 26022 | 24529 | ORPHA:35612 | Nanophthalmos | | | | 3 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | TMEM98 CL E G H | 26022 | 24529 | OMIM:615972 | Nanophthalmos 4 | | | | 3 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | TNPO2 CL E G H | 30000 | 19998 | OMIM:619556 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:231183 | Usher syndrome type 3 | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | TRPM1 CL E G H | 4308 | 7146 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 104 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:113500 | Brachyolmia type 3 | . | | | 214 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | TUBB4B CL E G H | 10383 | 20771 | OMIM:617879 | Leber congenital amaurosis with early-onset deafness | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:613843 | Leber congenital amaurosis 15 | HP:0040283 - Occasional | | | 66 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | USH1C CL E G H | 10083 | 12597 | ORPHA:231169 | Usher syndrome type 1 | | | | 173 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | USH1G CL E G H | 124590 | 16356 | ORPHA:231169 | Usher syndrome type 1 | | | | 78 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | . | | | 27 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 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:0000540 | HP:0000540 | Hypermetropia | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | HP:0040283 - Occasional | | | 20 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 95 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | . | | | 95 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 136 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | | | | 136 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | YME1L1 CL E G H | 10730 | 12843 | OMIM:617302 | Optic atrophy 11 | . | | | 2 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0000540 | HP:0000540 | Hypermetropia | 0 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | . | | | 4 | | |
HP:0000540 | HP:0031728 | Mild hypermetropia | 1 | CL E G H | | | | | | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | ALDH1A3 CL E G H | 220 | 409 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 10 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | ARSG CL E G H | 22901 | 24102 | ORPHA:231183 | Usher syndrome type 3 | HP:0040282 - Frequent | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | BEST1 CL E G H | 7439 | 12703 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 182 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:231169 | Usher syndrome type 1 | HP:0040282 - Frequent | | | 636 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | CEP78 CL E G H | 84131 | 25740 | ORPHA:231183 | Usher syndrome type 3 | HP:0040282 - Frequent | | | 9 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | CIB2 CL E G H | 10518 | 24579 | ORPHA:231169 | Usher syndrome type 1 | HP:0040282 - Frequent | | | 15 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:231183 | Usher syndrome type 3 | HP:0040282 - Frequent | | | 60 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | | | | 61 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | CRB1 CL E G H | 23418 | 2343 | OMIM:613835 | Leber congenital amaurosis 8 | . | | | 156 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | CRB1 CL E G H | 23418 | 2343 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 156 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | CRB1 CL E G H | 23418 | 2343 | OMIM:600105 | Retinitis pigmentosa 12 | | | | 156 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | CSTA CL E G H | 1475 | 2481 | ORPHA:263534 | Acral peeling skin syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | ESPN CL E G H | 83715 | 13281 | ORPHA:231169 | Usher syndrome type 1 | HP:0040282 - Frequent | | | 33 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | FGF3 CL E G H | 2248 | 3681 | ORPHA:90024 | Deafness with labyrinthine aplasia, microtia, and microdontia | HP:0040283 - Occasional | | | 18 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040282 - Frequent | | | 68 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | HARS1 CL E G H | 3035 | 4816 | ORPHA:231183 | Usher syndrome type 3 | HP:0040282 - Frequent | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 93 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 11 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 4 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | LCA5 CL E G H | 167691 | 31923 | OMIM:604537 | Leber congenital amaurosis 5 | . | | | 70 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | MFRP CL E G H | 83552 | 18121 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 26 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231169 | Usher syndrome type 1 | HP:0040282 - Frequent | | | 516 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | OGT CL E G H | 8473 | 8127 | OMIM:300997 | Mental retardation, X-linked 106 | | | | 4 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 41 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | PCDH15 CL E G H | 65217 | 14674 | ORPHA:231169 | Usher syndrome type 1 | HP:0040282 - Frequent | | | 352 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 148 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | PRSS56 CL E G H | 646960 | 39433 | OMIM:613517 | Microphthalmia, isolated 6 | . | | | 11 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | PRSS56 CL E G H | 646960 | 39433 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 11 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:1713 | 17p11.2 microduplication syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | RAX CL E G H | 30062 | 18662 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 43 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040281 - Very frequent | | | 37 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | RPGRIP1 CL E G H | 57096 | 13436 | OMIM:613826 | Leber congenital amaurosis 6 | . | | | 109 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | SIX6 CL E G H | 4990 | 10892 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 20 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | SLC6A6 CL E G H | 6533 | 11052 | OMIM:145350 | Hypotaurinemic retinal degeneration and cardiomyopathy | | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | HP:0040282 - Frequent | | | 504 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | SOX2 CL E G H | 6657 | 11195 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 33 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000540 | HP:0031729 | Moderate hypermetropia | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | TGM5 CL E G H | 9333 | 11781 | ORPHA:263534 | Acral peeling skin syndrome | HP:0040282 - Frequent | | | 44 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | TMEM98 CL E G H | 26022 | 24529 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 3 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:231183 | Usher syndrome type 3 | HP:0040282 - Frequent | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | TUBB4B CL E G H | 10383 | 20771 | OMIM:617879 | Leber congenital amaurosis with early-onset deafness | . | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | USH1C CL E G H | 10083 | 12597 | ORPHA:231169 | Usher syndrome type 1 | HP:0040282 - Frequent | | | 173 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | USH1G CL E G H | 124590 | 16356 | ORPHA:231169 | Usher syndrome type 1 | HP:0040282 - Frequent | | | 78 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 95 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 136 | | |
HP:0000540 | HP:0008499 | High hypermetropia | 1 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0000540 | HP:0500042 | Latent hypermetropia | 2 | CL E G H | | | | | | | | | | |