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:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:601718 | Retinitis pigmentosa 19 | . | | | 826 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ABHD12 CL E G H | 26090 | 15868 | OMIM:612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | . | | | 50 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ACBD5 CL E G H | 91452 | 23338 | OMIM:618863 | RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD | | | | 1 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | . | | | 120 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ADGRV1 CL E G H | 84059 | 17416 | OMIM:605472 | Usher syndrome, type IIC | . | | | 530 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | AGBL5 CL E G H | 60509 | 26147 | OMIM:617023 | Retinitis pigmentosa 75 | | | | 2 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | AHR CL E G H | 196 | 348 | OMIM:618345 | RETINITIS PIGMENTOSA 85; RP85 | | | | 2 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | AIPL1 CL E G H | 23746 | 359 | OMIM:268000 | Retinitis pigmentosa | | | | 114 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ALG6 CL E G H | 29929 | 23157 | ORPHA:79320 | ALG6-CDG | HP:0040284 - Very rare | | | 66 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | AMACR CL E G H | 23600 | 451 | OMIM:614307 | Alpha-methylacyl-CoA racemase deficiency | | | | 44 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | AP3B2 CL E G H | 8120 | 567 | OMIM:617276 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48 | | | | 7 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ARL2 CL E G H | 402 | 693 | OMIM:619082 | MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1 | | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ARL2BP CL E G H | 23568 | 17146 | OMIM:615434 | Retinitis pigmentosa with or without situs inversus | . | | | 3 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618173 | RETINITIS PIGMENTOSA 83; RP83 | | | | 1 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:600151 | Bardet-Biedl syndrome 3 | | | | 29 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:268000 | Retinitis pigmentosa | | | | 29 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:613575 | RETINITIS PIGMENTOSA 55; RP55 | | | | 29 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ASPA CL E G H | 443 | 756 | ORPHA:314918 | Mild Canavan disease | HP:0040283 - Occasional | | | 48 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:644 | NARP syndrome | HP:0040282 - Frequent | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ATP6 CL E G H | 4508 | 7414 | OMIM:551500 | Neuropathy, ataxia, and retinitis pigmentosa | . | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | . | | | 11 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | BBIP1 CL E G H | 92482 | 28093 | OMIM:615995 | Bardet-Biedl syndrome 18 | . | | | 1 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | BBS10 CL E G H | 79738 | 26291 | OMIM:615987 | Bardet-Biedl syndrome 10 | . | | | 118 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | BBS12 CL E G H | 166379 | 26648 | OMIM:615989 | Bardet-Biedl syndrome 12 | . | | | 71 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | BBS2 CL E G H | 583 | 967 | OMIM:615981 | Bardet-Biedl syndrome 2 | | | | 97 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | BBS2 CL E G H | 583 | 967 | OMIM:616562 | Retinitis pigmentosa 74 | . | | | 97 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | BBS4 CL E G H | 585 | 969 | OMIM:615982 | Bardet-Biedl syndrome 4 | . | | | 87 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | BBS5 CL E G H | 129880 | 970 | OMIM:615983 | Bardet-Biedl syndrome 5 | | | | 25 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | BBS7 CL E G H | 55212 | 18758 | OMIM:615984 | BARDET-BIEDL SYNDROME 7; BBS7 | | | | 66 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | . | | | 72 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:613194 | Retinitis pigmentosa-50 | . | | | 182 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | C1QTNF5 CL E G H | 114902 | 14344 | OMIM:605670 | Late-Onset retinal degeneration | . | | | 20 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619845 | RETINITIS PIGMENTOSA 93; RP93 | | | | 247 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 36 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 126 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 182 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 23 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 23 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CDH23 CL E G H | 64072 | 13733 | OMIM:601067 | Usher syndrome, type ID | . | | | 636 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CDHR1 CL E G H | 92211 | 14550 | OMIM:613660 | CONE-ROD DYSTROPHY 15; CORD15 | | | | 147 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:615991 | Bardet-Biedl syndrome 14 | . | | | 342 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | . | | | 342 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610189 | Senior-Loken syndrome 6 | . | | | 342 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CERKL CL E G H | 375298 | 21699 | OMIM:608380 | Retinitis pigmentosa 26 | . | | | 71 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CFAP410 CL E G H | 755 | 1260 | OMIM:602271 | Spondylometaphyseal dysplasia, axial | . | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:614500 | Cone-Rod dystrophy 16 | | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:268000 | Retinitis pigmentosa | | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CIB2 CL E G H | 10518 | 24579 | OMIM:614869 | Usher syndrome, type IJ | . | | | 15 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CLDN19 CL E G H | 149461 | 2040 | OMIM:248190 | Hypomagnesemia 5, renal, with or without ocular involvement | . | | | 42 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | . | | | 216 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CLRN1 CL E G H | 7401 | 12605 | OMIM:268000 | Retinitis pigmentosa | | | | 60 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CLRN1 CL E G H | 7401 | 12605 | OMIM:614180 | Retinitis pigmentosa 61 | . | | | 60 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CLRN1 CL E G H | 7401 | 12605 | OMIM:276902 | Usher syndrome, type IIIA | . | | | 60 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CNGA1 CL E G H | 1259 | 2148 | OMIM:268000 | Retinitis pigmentosa | | | | 44 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CNGA1 CL E G H | 1259 | 2148 | OMIM:613756 | RETINITIS PIGMENTOSA 49; RP49 | | | | 44 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CNGB1 CL E G H | 1258 | 2151 | OMIM:613767 | Retinitis pigmentosa 45 | . | | | 164 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | . | | | 54 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:600105 | Retinitis pigmentosa 12 | . | | | 156 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CRX CL E G H | 1406 | 2383 | OMIM:268000 | Retinitis pigmentosa | | | | 158 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | . | | | 159 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | DHDDS CL E G H | 79947 | 20603 | OMIM:613861 | Retinitis pigmentosa 59 | . | | | 47 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | DHX38 CL E G H | 9785 | 17211 | OMIM:618220 | Retinitis pigmentosa 84 | . | | | 1 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 116 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 78 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 63 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 27 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 62 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 21 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 542 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 527 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 18 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 73 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 104 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 2 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 167 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040283 - Occasional | | | 38 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 44 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | DYNC2I2 CL E G H | 89891 | 28296 | OMIM:615633 | Short-Rib thoracic dysplasia 11 with or without polydactyly | HP:0040283 - Occasional | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | EXOSC2 CL E G H | 23404 | 17097 | OMIM:617763 | Short stature, hearing loss, retinitis pigmentosa, and distinctive facies | . | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | EYS CL E G H | 346007 | 21555 | OMIM:602772 | Retinitis pigmentosa 25 | | | | 209 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | FAM161A CL E G H | 84140 | 25808 | OMIM:606068 | RETINITIS PIGMENTOSA 28; RP28 | | | | 56 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | FDXR CL E G H | 2232 | 3642 | OMIM:617717 | Auditory neuropathy and optic atrophy | . | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | FSCN2 CL E G H | 25794 | 3960 | OMIM:607921 | RETINITIS PIGMENTOSA 30; RP30 | | | | 26 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 1 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 9 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | GATA3 CL E G H | 2625 | 4172 | ORPHA:2237 | Hypoparathyroidism-sensorineural deafness-renal disease syndrome | HP:0040284 - Very rare | | | 83 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | GGCX CL E G H | 2677 | 4247 | ORPHA:436274 | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa | HP:0040280 - Obligate | | | 129 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | GNAT1 CL E G H | 2779 | 4393 | OMIM:616389 | Night blindness, congenital stationary, type 1G | | | | 39 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | GRK1 CL E G H | 6011 | 10013 | ORPHA:75382 | Oguchi disease | HP:0040284 - Very rare | | | 4 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | GUCA1B CL E G H | 2979 | 4679 | OMIM:613827 | RETINITIS PIGMENTOSA 48; RP48 | | | | 36 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | . | | | 86 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:616544 | Retinitis pigmentosa 73 | . | | | 86 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | . | | | 2 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040283 - Occasional | | | 19 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | HSPD1 CL E G H | 3329 | 5261 | ORPHA:100994 | Autosomal dominant spastic paraplegia type 13 | HP:0040284 - Very rare | | | 46 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 21 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | IDH3B CL E G H | 3420 | 5385 | OMIM:612572 | RETINITIS PIGMENTOSA 46; RP46 | | | | 30 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | . | | | 148 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:616394 | Retinitis pigmentosa 71 | . | | | 48 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | IFT27 CL E G H | 11020 | 18626 | OMIM:615996 | Bardet-Biedl syndrome 19 | . | | | 1 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | IFT74 CL E G H | 80173 | 21424 | OMIM:617119 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 3 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | IMPDH1 CL E G H | 3614 | 6052 | OMIM:180105 | Retinitis pigmentosa 10 | . | | | 52 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | IMPG2 CL E G H | 50939 | 18362 | OMIM:613581 | RETINITIS PIGMENTOSA 56; RP56 | | | | 120 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | IQCB1 CL E G H | 9657 | 28949 | OMIM:609254 | Senior-Loken syndrome 5 | . | | | 61 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | KIF3B CL E G H | 9371 | 6320 | OMIM:618955 | RETINITIS PIGMENTOSA 89; RP89 | | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | KIF5A CL E G H | 3798 | 6323 | ORPHA:100991 | Autosomal dominant spastic paraplegia type 10 | HP:0040282 - Frequent | | | 93 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | KIZ CL E G H | 55857 | 15865 | OMIM:615780 | Retinitis pigmentosa 69 | . | | | 3 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | KLHL7 CL E G H | 55975 | 15646 | OMIM:617055 | Crisponi/cold-Induced sweating syndrome 3 | HP:0040284 - Very rare | | | 42 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | KLHL7 CL E G H | 55975 | 15646 | OMIM:612943 | Retinitis pigmentosa 42 | . | | | 42 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | LRAT CL E G H | 9227 | 6685 | OMIM:613341 | Leber congenital amaurosis 14 | . | | | 62 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | LRAT CL E G H | 9227 | 6685 | OMIM:268000 | Retinitis pigmentosa | | | | 62 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | MAK CL E G H | 4117 | 6816 | OMIM:614181 | Retinitis pigmentosa 62 | . | | | 53 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | MAPKAPK3 CL E G H | 7867 | 6888 | OMIM:617111 | Macular dystrophy, patterned, 3 | . | | | 1 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 13 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | MDH2 CL E G H | 4191 | 6971 | OMIM:617339 | Epileptic encephalopathy, early infantile, 51 | HP:0040283 - Occasional | | | 4 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | MERTK CL E G H | 10461 | 7027 | OMIM:613862 | Retinitis pigmentosa 38 | . | | | 75 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | MFRP CL E G H | 83552 | 18121 | OMIM:611040 | Microphthalmia, isolated 5 | . | | | 26 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | MKKS CL E G H | 8195 | 7108 | OMIM:605231 | Bardet-Biedl syndrome 6 | . | | | 69 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:615990 | BARDET-BIEDL SYNDROME 13; BBS13 | | | | 127 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040283 - Occasional | | | 81 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | MYO6 CL E G H | 4646 | 7605 | OMIM:607821 | Deafness, autosomal recessive 37 | HP:0040283 - Occasional | | | 179 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | MYO7A CL E G H | 4647 | 7606 | OMIM:276900 | Usher syndrome, type I | . | | | 516 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | NDUFA9 CL E G H | 4704 | 7693 | OMIM:618247 | Mitochondrial complex I deficiency, nuclear type 26 | . | | | 27 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | NEK2 CL E G H | 4751 | 7745 | OMIM:615565 | Retinitis pigmentosa 67 | . | | | 5 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 50 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606996 | Senior-Loken syndrome 4 | . | | | 220 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | NR2E3 CL E G H | 10002 | 7974 | OMIM:611131 | Retinitis pigmentosa 37 | . | | | 58 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | NRL CL E G H | 4901 | 8002 | OMIM:613750 | Retinitis pigmentosa 27 | . | | | 30 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300804 | Joubert syndrome 10 | | | | 201 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 201 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300424 | Retinitis pigmentosa 23 | . | | | 201 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216866 | Classic pantothenate kinase-associated neurodegeneration | HP:0040282 - Frequent | | | 55 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration | . | | | 55 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PCARE CL E G H | 388939 | 34383 | OMIM:613428 | Retinitis pigmentosa 54 | | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PCDH15 CL E G H | 65217 | 14674 | OMIM:601067 | Usher syndrome, type ID | . | | | 352 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PCDH15 CL E G H | 65217 | 14674 | OMIM:602083 | Usher syndrome, type IF | . | | | 352 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PDE6A CL E G H | 5145 | 8785 | OMIM:613810 | RETINITIS PIGMENTOSA 43; RP43 | | | | 116 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PDE6B CL E G H | 5158 | 8786 | OMIM:613801 | Retinitis pigmentosa 40 | . | | | 126 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PDE6G CL E G H | 5148 | 8789 | OMIM:268000 | Retinitis pigmentosa | | | | 18 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PDE6G CL E G H | 5148 | 8789 | OMIM:613582 | Retinitis pigmentosa 57 | . | | | 18 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PDZD7 CL E G H | 79955 | 26257 | OMIM:276901 | Usher syndrome, type IIA | . | | | 40 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PDZD7 CL E G H | 79955 | 26257 | OMIM:605472 | Usher syndrome, type IIC | . | | | 40 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 169 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:601539 | Peroxisome biogenesis disorder 1B | . | | | 169 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 75 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 4 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 65 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PEX12 CL E G H | 5193 | 8854 | OMIM:266510 | Peroxisome biogenesis disorder 3B | . | | | 65 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 66 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 46 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 59 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 62 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 82 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614867 | Peroxisome biogenesis disorder 5B | . | | | 82 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 106 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 47 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 99 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 98 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614863 | Peroxisome biogenesis disorder 4B | . | | | 98 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:614879 | Peroxisome biogenesis disorder 9B | . | | | 72 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:266500 | Refsum disease | . | | | 72 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PHYH CL E G H | 5264 | 8940 | OMIM:266500 | Refsum disease | . | | | 45 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040283 - Occasional | | | 150 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | . | | | 35 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | . | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PRCD CL E G H | 768206 | 32528 | OMIM:610599 | Retinitis pigmentosa 36 | . | | | 39 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:612095 | RETINITIS PIGMENTOSA 41; RP41 | | | | 110 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PRPF3 CL E G H | 9129 | 17348 | OMIM:601414 | Retinitis pigmentosa 18 | . | | | 28 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PRPF31 CL E G H | 26121 | 15446 | OMIM:600138 | Retinitis pigmentosa 11 | | | | 70 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PRPF4 CL E G H | 9128 | 17349 | OMIM:615922 | Retinitis pigmentosa 70 | . | | | 2 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PRPF6 CL E G H | 24148 | 15860 | OMIM:613983 | Retinitis pigmentosa 60 | . | | | 51 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PRPF8 CL E G H | 10594 | 17340 | OMIM:600059 | Retinitis pigmentosa 13 | . | | | 94 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:608133 | Retinitis pigmentosa 7 | . | | | 159 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:311070 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | HP:0040283 - Occasional | | | 49 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | RBP3 CL E G H | 5949 | 9921 | OMIM:268000 | Retinitis pigmentosa | | | | 108 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | RBP3 CL E G H | 5949 | 9921 | OMIM:615233 | Retinitis pigmentosa 66 | . | | | 108 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | RDH11 CL E G H | 51109 | 17964 | ORPHA:436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | REEP6 CL E G H | 92840 | 30078 | OMIM:617304 | Retinitis pigmentosa 77 | . | | | 5 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | RGR CL E G H | 5995 | 9990 | OMIM:613769 | RETINITIS PIGMENTOSA 44; RP44 | | | | 28 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | RHO CL E G H | 6010 | 10012 | OMIM:613731 | Retinitis pigmentosa 4 | . | | | 107 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:85128 | Bothnia retinal dystrophy | HP:0040283 - Occasional | | | 47 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ROM1 CL E G H | 6094 | 10254 | OMIM:268000 | Retinitis pigmentosa | | | | 38 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ROM1 CL E G H | 6094 | 10254 | OMIM:608133 | Retinitis pigmentosa 7 | . | | | 38 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | RP1 CL E G H | 6101 | 10263 | OMIM:180100 | Retinitis pigmentosa 1 | . | | | 111 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | RP2 CL E G H | 6102 | 10274 | OMIM:312600 | Retinitis pigmentosa 2, X-linked | . | | | 45 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | RP9 CL E G H | 6100 | 10288 | OMIM:180104 | Retinitis pigmentosa 9 | . | | | 14 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | RPE65 CL E G H | 6121 | 10294 | OMIM:613794 | Retinitis pigmentosa 20 | . | | | 129 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 200 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300029 | Retinitis pigmentosa 3 | . | | | 200 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300455 | RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS | | | | 200 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:268315 | ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION | | | | 125 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 31 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 5 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 58 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 20 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:75382 | Oguchi disease | HP:0040284 - Very rare | | | 32 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | SAG CL E G H | 6295 | 10521 | OMIM:613758 | RETINITIS PIGMENTOSA 47; RP47 | | | | 32 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | SDCCAG8 CL E G H | 10806 | 10671 | OMIM:615993 | Bardet-Biedl syndrome 16 | . | | | 61 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610283 | Cone-Rod dystrophy 10 | . | | | 48 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610282 | Retinitis pigmentosa 35 | . | | | 48 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261222 | Distal 16p11.2 microdeletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | . | | | 27 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | SLC7A14 CL E G H | 57709 | 29326 | OMIM:615725 | Retinitis pigmentosa 68 | . | | | 4 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | SNRNP200 CL E G H | 23020 | 30859 | OMIM:610359 | Retinitis pigmentosa 33 | . | | | 83 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 45 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 15 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | SRD5A3 CL E G H | 79644 | 25812 | ORPHA:324737 | SRD5A3-CDG | HP:0040283 - Occasional | | | 80 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 3 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040283 - Occasional | | | 12 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:615991 | Bardet-Biedl syndrome 14 | . | | | 166 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:140976 | RHYNS syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:602152 | Rhyns syndrome | . | | | 166 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | TOPORS CL E G H | 10210 | 21653 | OMIM:609923 | Retinitis pigmentosa 31 | . | | | 61 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | TRAF3IP1 CL E G H | 26146 | 17861 | OMIM:616629 | Senior-Loken syndrome 9 | . | | | 6 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | TRIP13 CL E G H | 9319 | 12307 | OMIM:617598 | Mosaic variegated aneuploidy syndrome 3 | | | | 2 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | TTC8 CL E G H | 123016 | 20087 | OMIM:615985 | Bardet-Biedl syndrome 8 | . | | | 41 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | TTC8 CL E G H | 123016 | 20087 | OMIM:613464 | Retinitis pigmentosa 51 | . | | | 41 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:613843 | Leber congenital amaurosis 15 | . | | | 66 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:600132 | RETINITIS PIGMENTOSA 14; RP14 | | | | 66 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | USH1C CL E G H | 10083 | 12597 | OMIM:276900 | Usher syndrome, type I | . | | | 173 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | USH1C CL E G H | 10083 | 12597 | OMIM:276904 | Usher syndrome, type IC | . | | | 173 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | USH1G CL E G H | 124590 | 16356 | OMIM:606943 | Usher syndrome, type IG | . | | | 78 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | USH2A CL E G H | 7399 | 12601 | OMIM:613809 | Retinitis pigmentosa 39 | | | | 777 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | USH2A CL E G H | 7399 | 12601 | OMIM:276901 | Usher syndrome, type IIA | . | | | 777 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | WARS2 CL E G H | 10352 | 12730 | OMIM:617710 | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | HP:0040284 - Very rare | | | 2 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040283 - Occasional | | | 2 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | . | | | 95 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:616307 | Senior-Loken syndrome 8 | | | | 95 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | WHRN CL E G H | 25861 | 16361 | OMIM:611383 | Usher syndrome, type IID | . | | | 155 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 20 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616469 | Retinitis pigmentosa 72 | . | | | 14 | | |
HP:0000510 | HP:0000510 | Rod-cone dystrophy | 0 | ZNF513 CL E G H | 130557 | 26498 | OMIM:613617 | Retinitis pigmentosa 58 | . | | | 27 | | |
HP:0000510 | HP:0031172 | Sectoral retinitis pigmentosa | 1 | CL E G H | | | | | | | | | | |
HP:0000510 | HP:0007947 | Pericentral retinitis pigmentosa | 1 | CL E G H | | | | | | | | | | |