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:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:604116 | CONE-ROD DYSTROPHY 3; CORD3 | | | | 826 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:601718 | Retinitis pigmentosa 19 | | | | 826 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | AGBL5 CL E G H | 60509 | 26147 | OMIM:617023 | Retinitis pigmentosa 75 | | | | 2 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | AIPL1 CL E G H | 23746 | 359 | OMIM:268000 | Retinitis pigmentosa | . | | | 114 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | AMACR CL E G H | 23600 | 451 | OMIM:614307 | Alpha-methylacyl-CoA racemase deficiency | | | | 44 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618173 | RETINITIS PIGMENTOSA 83; RP83 | | | | 1 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:268000 | Retinitis pigmentosa | . | | | 29 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | ARSG CL E G H | 22901 | 24102 | OMIM:618144 | USHER SYNDROME, TYPE IV; USH4 | | | | | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:644 | NARP syndrome | HP:0040282 - Frequent | | | | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | BBS2 CL E G H | 583 | 967 | OMIM:616562 | Retinitis pigmentosa 74 | . | | | 97 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | CACNA2D4 CL E G H | 93589 | 20202 | OMIM:610478 | Retinal cone dystrophy 4 | . | | | 129 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619845 | RETINITIS PIGMENTOSA 93; RP93 | | | | 247 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | CDHR1 CL E G H | 92211 | 14550 | OMIM:613660 | CONE-ROD DYSTROPHY 15; CORD15 | | | | 147 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | CERKL CL E G H | 375298 | 21699 | OMIM:608380 | Retinitis pigmentosa 26 | | | | 71 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:268000 | Retinitis pigmentosa | . | | | | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | . | | | 47 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | CLRN1 CL E G H | 7401 | 12605 | OMIM:268000 | Retinitis pigmentosa | . | | | 60 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | CNGA1 CL E G H | 1259 | 2148 | OMIM:268000 | Retinitis pigmentosa | . | | | 44 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | CNGA1 CL E G H | 1259 | 2148 | OMIM:613756 | RETINITIS PIGMENTOSA 49; RP49 | | | | 44 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | CNGB1 CL E G H | 1258 | 2151 | OMIM:613767 | Retinitis pigmentosa 45 | | | | 164 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | CRX CL E G H | 1406 | 2383 | OMIM:120970 | Cone-Rod dystrophy 2 | | | | 158 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | CRX CL E G H | 1406 | 2383 | OMIM:268000 | Retinitis pigmentosa | . | | | 158 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:98977 | Juvenile glaucoma | | | | 101 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | CYP4V2 CL E G H | 285440 | 23198 | OMIM:210370 | Bietti crystalline corneoretinal dystrophy | . | | | 126 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | CYP4V2 CL E G H | 285440 | 23198 | ORPHA:41751 | Bietti crystalline dystrophy | HP:0040282 - Frequent | | | 126 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | DHDDS CL E G H | 79947 | 20603 | OMIM:613861 | Retinitis pigmentosa 59 | | | | 47 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | DLAT CL E G H | 1737 | 2896 | ORPHA:79244 | Pyruvate dehydrogenase E2 deficiency | | | | 82 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:98977 | Juvenile glaucoma | | | | 54 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | ELOVL1 CL E G H | 64834 | 14418 | OMIM:618527 | Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features | | | | | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | EYS CL E G H | 346007 | 21555 | OMIM:602772 | Retinitis pigmentosa 25 | | | | 209 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | FAM161A CL E G H | 84140 | 25808 | OMIM:606068 | RETINITIS PIGMENTOSA 28; RP28 | | | | 56 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | GNAT1 CL E G H | 2779 | 4393 | OMIM:616389 | Night blindness, congenital stationary, type 1G | | | | 39 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:601777 | Cone-Rod dystrophy 6 | | | | 124 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:616544 | Retinitis pigmentosa 73 | . | | | 86 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:617460 | Retinitis pigmentosa 79 | . | | | 11 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | HKDC1 CL E G H | 80201 | 23302 | OMIM:619614 | RETINITIS PIGMENTOSA 92; RP92 | | | | 2 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | IDH3A CL E G H | 3419 | 5384 | OMIM:619007 | RETINITIS PIGMENTOSA 90; RP90 | | | | | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | IDH3B CL E G H | 3420 | 5385 | OMIM:612572 | RETINITIS PIGMENTOSA 46; RP46 | | | | 30 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | | | | 86 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | | | | 86 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | IMPDH1 CL E G H | 3614 | 6052 | OMIM:180105 | Retinitis pigmentosa 10 | . | | | 52 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | KIF3B CL E G H | 9371 | 6320 | OMIM:618955 | RETINITIS PIGMENTOSA 89; RP89 | | | | | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | KIZ CL E G H | 55857 | 15865 | OMIM:615780 | Retinitis pigmentosa 69 | . | | | 3 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 70 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | LRAT CL E G H | 9227 | 6685 | OMIM:268000 | Retinitis pigmentosa | . | | | 62 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 62 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | MERTK CL E G H | 10461 | 7027 | OMIM:613862 | Retinitis pigmentosa 38 | | | | 75 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | MYOC CL E G H | 4653 | 7610 | ORPHA:98977 | Juvenile glaucoma | | | | 47 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | OAT CL E G H | 4942 | 8091 | ORPHA:414 | Gyrate atrophy of choroid and retina | HP:0040282 - Frequent | | | 94 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300424 | Retinitis pigmentosa 23 | | | | 201 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | HP:0040283 - Occasional | | | 214 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PDE6A CL E G H | 5145 | 8785 | OMIM:613810 | RETINITIS PIGMENTOSA 43; RP43 | | | | 116 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PDE6G CL E G H | 5148 | 8789 | OMIM:268000 | Retinitis pigmentosa | . | | | 18 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PDE6G CL E G H | 5148 | 8789 | OMIM:613582 | Retinitis pigmentosa 57 | | | | 18 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 169 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 75 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 4 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 65 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 66 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 46 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 59 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 62 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 82 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 106 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 47 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 99 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 98 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | POC1B CL E G H | 282809 | 30836 | OMIM:615973 | Cone-Rod dystrophy 20 | . | | | 3 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:617123 | RETINITIS PIGMENTOSA 76; RP76 | | | | 180 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | | | | 40 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:612095 | RETINITIS PIGMENTOSA 41; RP41 | | | | 110 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PRPF31 CL E G H | 26121 | 15446 | OMIM:600138 | Retinitis pigmentosa 11 | | | | 70 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PRPF8 CL E G H | 10594 | 17340 | OMIM:600059 | Retinitis pigmentosa 13 | . | | | 94 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:608133 | Retinitis pigmentosa 7 | . | | | 159 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:52427 | Retinitis punctata albescens | | | | 159 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | RAX2 CL E G H | 84839 | 18286 | OMIM:620102 | | | | | 52 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | RBP3 CL E G H | 5949 | 9921 | OMIM:268000 | Retinitis pigmentosa | . | | | 108 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | RBP3 CL E G H | 5949 | 9921 | OMIM:615233 | Retinitis pigmentosa 66 | . | | | 108 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | RDH11 CL E G H | 51109 | 17964 | ORPHA:436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | RDH5 CL E G H | 5959 | 9940 | ORPHA:52427 | Retinitis punctata albescens | | | | 32 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | RGR CL E G H | 5995 | 9990 | OMIM:613769 | RETINITIS PIGMENTOSA 44; RP44 | | | | 28 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:52427 | Retinitis punctata albescens | | | | 107 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:52427 | Retinitis punctata albescens | | | | 47 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:226960 | EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS | | | | 15 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | ROM1 CL E G H | 6094 | 10254 | OMIM:268000 | Retinitis pigmentosa | . | | | 38 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | ROM1 CL E G H | 6094 | 10254 | OMIM:608133 | Retinitis pigmentosa 7 | . | | | 38 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | RP1 CL E G H | 6101 | 10263 | OMIM:180100 | Retinitis pigmentosa 1 | . | | | 111 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | RP2 CL E G H | 6102 | 10274 | OMIM:312600 | Retinitis pigmentosa 2, X-linked | . | | | 45 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | RP9 CL E G H | 6100 | 10288 | OMIM:180104 | Retinitis pigmentosa 9 | . | | | 14 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | RPE65 CL E G H | 6121 | 10294 | OMIM:618697 | RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87 | | | | 129 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 129 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300029 | Retinitis pigmentosa 3 | | | | 200 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:268315 | ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION | | | | 125 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:619259 | NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA | | | | 304 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610283 | Cone-Rod dystrophy 10 | | | | 48 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | SH3BP2 CL E G H | 6452 | 10825 | OMIM:118400 | Cherubism | | | | 177 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | | | | 493 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | SLC6A6 CL E G H | 6533 | 11052 | OMIM:145350 | Hypotaurinemic retinal degeneration and cardiomyopathy | | | | | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | SOST CL E G H | 50964 | 13771 | OMIM:269500 | Sclerosteosis 1 | . | | | 26 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | SPATA7 CL E G H | 55812 | 20423 | OMIM:604232 | LEBER CONGENITAL AMAUROSIS 3; LCA3 | | | | 48 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 48 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | TIMM8A CL E G H | 1678 | 11817 | OMIM:304700 | Mohr-Tranebjaerg syndrome | . | | | 15 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | TMEM126A CL E G H | 84233 | 25382 | OMIM:612989 | Optic atrophy 7 with or without auditory neuropathy | . | | | 23 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:613843 | Leber congenital amaurosis 15 | . | | | 66 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:600132 | RETINITIS PIGMENTOSA 14; RP14 | | | | 66 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616469 | Retinitis pigmentosa 72 | . | | | 14 | | |
HP:0001133 | HP:0001133 | Constriction of peripheral visual field | 0 | ZNF513 CL E G H | 130557 | 26498 | OMIM:613617 | Retinitis pigmentosa 58 | | | | 27 | | |
HP:0001133 | HP:0030527 | Very severe constriction of peripheral visual field | 1 | CL E G H | | | | | | | | | | |
HP:0001133 | HP:0030526 | Severe constriction of peripheral visual field | 1 | CL E G H | | | | | | | | | | |
HP:0001133 | HP:0030525 | Moderate constriction of peripheral visual field | 1 | CL E G H | | | | | | | | | | |
HP:0001133 | HP:0030522 | Mild constriction of peripheral visual field | 1 | CL E G H | | | | | | | | | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | ABCA4 CL E G H | 24 | 34 | OMIM:604116 | CONE-ROD DYSTROPHY 3; CORD3 | | | | 826 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | AGBL5 CL E G H | 60509 | 26147 | OMIM:617023 | Retinitis pigmentosa 75 | . | | | 2 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | CNGA1 CL E G H | 1259 | 2148 | OMIM:613756 | RETINITIS PIGMENTOSA 49; RP49 | | | | 44 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | CNGB1 CL E G H | 1258 | 2151 | OMIM:613767 | Retinitis pigmentosa 45 | . | | | 164 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | CRX CL E G H | 1406 | 2383 | OMIM:120970 | Cone-Rod dystrophy 2 | . | | | 158 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:98977 | Juvenile glaucoma | HP:0040282 - Frequent | | | 101 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | DLAT CL E G H | 1737 | 2896 | ORPHA:79244 | Pyruvate dehydrogenase E2 deficiency | HP:0040283 - Occasional | | | 82 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:98977 | Juvenile glaucoma | HP:0040282 - Frequent | | | 54 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | GUCY2D CL E G H | 3000 | 4689 | OMIM:601777 | Cone-Rod dystrophy 6 | . | | | 124 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040283 - Occasional | | | 86 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040283 - Occasional | | | 86 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 70 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 62 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | MYOC CL E G H | 4653 | 7610 | ORPHA:98977 | Juvenile glaucoma | HP:0040282 - Frequent | | | 47 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | PDE6A CL E G H | 5145 | 8785 | OMIM:613810 | RETINITIS PIGMENTOSA 43; RP43 | | | | 116 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | PROM1 CL E G H | 8842 | 9454 | OMIM:612095 | RETINITIS PIGMENTOSA 41; RP41 | | | | 110 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 159 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | RDH5 CL E G H | 5959 | 9940 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 32 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | RHO CL E G H | 6010 | 10012 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 107 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 47 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:226960 | EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS | | | | 15 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | RPE65 CL E G H | 6121 | 10294 | OMIM:618697 | RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87 | | | | 129 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 129 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | RRM2B CL E G H | 50484 | 17296 | OMIM:268315 | ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION | | | | 125 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | SDHA CL E G H | 6389 | 10680 | OMIM:619259 | NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA | | | | 304 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610283 | Cone-Rod dystrophy 10 | . | | | 48 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | HP:0040284 - Very rare | | | 493 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | SLC6A6 CL E G H | 6533 | 11052 | OMIM:145350 | Hypotaurinemic retinal degeneration and cardiomyopathy | | | | | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 48 | | |
HP:0001133 | HP:0007994 | Peripheral visual field loss | 1 | ZNF513 CL E G H | 130557 | 26498 | OMIM:613617 | Retinitis pigmentosa 58 | . | | | 27 | | |