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:0000543 | HP:0000543 | Optic disc pallor | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:604116 | CONE-ROD DYSTROPHY 3; CORD3 | | | | 826 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:601718 | Retinitis pigmentosa 19 | . | | | 826 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | ACER3 CL E G H | 55331 | 16066 | OMIM:617762 | Leukodystrophy, progressive, early childhood-onset | . | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | ACO2 CL E G H | 50 | 118 | OMIM:616289 | Optic atrophy 9 | | | | 60 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:618977 | OPTIC ATROPHY 12; OPA12 | | | | 86 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | . | | | 60 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | AIPL1 CL E G H | 23746 | 359 | OMIM:604393 | Leber congenital amaurosis 4 | . | | | 114 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040282 - Frequent | | | 404 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | AP3B2 CL E G H | 8120 | 567 | OMIM:617276 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48 | | | | 7 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | ARHGEF18 CL E G H | 23370 | 17090 | OMIM:617433 | Retinitis pigmentosa 78 | . | | | 6 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | . | | | 1 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | ARL13B CL E G H | 200894 | 25419 | OMIM:612291 | JOUBERT SYNDROME 8; JBTS8 | | | | 62 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | ARL2BP CL E G H | 23568 | 17146 | OMIM:615434 | Retinitis pigmentosa with or without situs inversus | . | | | 3 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:644 | NARP syndrome | HP:0040282 - Frequent | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | . | | | 19 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | | | | 38 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | BBS2 CL E G H | 583 | 967 | OMIM:616562 | Retinitis pigmentosa 74 | . | | | 97 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:613194 | Retinitis pigmentosa-50 | | | | 182 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | . | | | 42 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | | | | 20 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | CACNA1F CL E G H | 778 | 1393 | OMIM:300476 | Cone-Rod dystrophy, X-linked, 3 | HP:0040283 - Occasional | | | 58 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | | | | 118 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | CERKL CL E G H | 375298 | 21699 | OMIM:608380 | Retinitis pigmentosa 26 | | | | 71 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:614500 | Cone-Rod dystrophy 16 | | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | CLCC1 CL E G H | 23155 | 29675 | OMIM:609913 | RETINITIS PIGMENTOSA 32; RP32 | | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:611490 | Osteopetrosis, autosomal recessive 4 | . | | | 102 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | CLDN11 CL E G H | 5010 | 8514 | OMIM:619328 | Leukodystrophy, hypomyelinating, 22 | | HP:0011463 - Childhood onset | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | HP:0040282 - Frequent | | | 111 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | CNGA1 CL E G H | 1259 | 2148 | OMIM:613756 | RETINITIS PIGMENTOSA 49; RP49 | | | | 44 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | CNGA3 CL E G H | 1261 | 2150 | OMIM:216900 | Achromatopsia 2 | | | | 82 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | . | | | 61 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | | | | 193 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:300887 | Linear skin defects with multiple congenital anomalies 2 | HP:0040283 - Occasional | | | 6 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:600105 | Retinitis pigmentosa 12 | | | | 156 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:98977 | Juvenile glaucoma | | | | 101 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040282 - Frequent | | | 114 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | DARS1 CL E G H | 1615 | 2678 | OMIM:615281 | HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL | | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | | | | 94 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | | | | 94 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | | | | 38 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040283 - Occasional | | | 134 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:98977 | Juvenile glaucoma | | | | 54 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | ELOVL1 CL E G H | 64834 | 14418 | OMIM:618527 | Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features | . | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040284 - Very rare | | | 199 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040284 - Very rare | | | 55 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | ESPN CL E G H | 83715 | 13281 | OMIM:618632 | USHER SYNDROME, TYPE 1M; USH1M | | | | 33 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | EXOC8 CL E G H | 149371 | 24659 | OMIM:619076 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB | | | | 1 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | EYS CL E G H | 346007 | 21555 | OMIM:602772 | Retinitis pigmentosa 25 | . | | | 209 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | FAM161A CL E G H | 84140 | 25808 | OMIM:606068 | RETINITIS PIGMENTOSA 28; RP28 | | | | 56 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | FGF12 CL E G H | 2257 | 3668 | OMIM:617166 | Epileptic encephalopathy, early infantile, 47 | HP:0040283 - Occasional | | | 3 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | FLRT1 CL E G H | 23769 | 3760 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 61 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | HP:0040282 - Frequent | | | 43 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | GNAT1 CL E G H | 2779 | 4393 | OMIM:616389 | Night blindness, congenital stationary, type 1G | . | | | 39 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | GRID2 CL E G H | 2895 | 4576 | OMIM:616204 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18 | | | | 18 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | HARS1 CL E G H | 3035 | 4816 | OMIM:614504 | Usher syndrome, type IIIB | . | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:617460 | Retinitis pigmentosa 79 | . | | | 11 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | HLA-A CL E G H | 3105 | 4931 | ORPHA:179 | Birdshot chorioretinopathy | HP:0040282 - Frequent | | | 4 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | IDH3B CL E G H | 3420 | 5385 | OMIM:612572 | RETINITIS PIGMENTOSA 46; RP46 | | | | 30 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:616394 | Retinitis pigmentosa 71 | . | | | 48 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | IMPDH1 CL E G H | 3614 | 6052 | OMIM:180105 | Retinitis pigmentosa 10 | . | | | 52 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | IMPG2 CL E G H | 50939 | 18362 | OMIM:613581 | RETINITIS PIGMENTOSA 56; RP56 | | | | 120 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | ITM2B CL E G H | 9445 | 6174 | OMIM:616079 | Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities | . | | | 3 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | JAM3 CL E G H | 83700 | 15532 | OMIM:613730 | Hemorrhagic destruction of the brain, subependymal calcification,and cataracts | | | | 4 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | HP:0040283 - Occasional | | | 17 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | KCNJ13 CL E G H | 3769 | 6259 | OMIM:614186 | Leber congenital amaurosis 16 | . | | | 42 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | KIAA1549 CL E G H | 57670 | 22219 | OMIM:618613 | RETINITIS PIGMENTOSA 86; RP86 | | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | KLC2 CL E G H | 64837 | 20716 | OMIM:609541 | Spastic paraplegia, optic atrophy, and neuropathy | . | | | 1 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | KLC2 CL E G H | 64837 | 20716 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 70 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | LRAT CL E G H | 9227 | 6685 | OMIM:613341 | Leber congenital amaurosis 14 | . | | | 62 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 62 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | . | | | 10 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | MAG CL E G H | 4099 | 6783 | ORPHA:459056 | Autosomal recessive spastic paraplegia type 75 | | | | 4 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | MAK CL E G H | 4117 | 6816 | OMIM:614181 | Retinitis pigmentosa 62 | . | | | 53 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | HP:0040284 - Very rare | | | 136 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | MECR CL E G H | 51102 | 19691 | OMIM:617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | | | | 6 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | MERTK CL E G H | 10461 | 7027 | OMIM:613862 | Retinitis pigmentosa 38 | . | | | 75 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | MFF CL E G H | 56947 | 24858 | OMIM:617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | | | | 17 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | MFF CL E G H | 56947 | 24858 | ORPHA:485421 | MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect | HP:0040282 - Frequent | | | 17 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | . | | | 203 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | . | | | 203 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | MFSD8 CL E G H | 256471 | 28486 | OMIM:616170 | Macular dystrophy with central cone involvement | HP:0040283 - Occasional | | | 120 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:617121 | JOUBERT SYNDROME 28; JBTS28 | | | | 127 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | MMP19 CL E G H | 4327 | 7165 | OMIM:611543 | Cavitary optic disc anomalies | | | | 2 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | HP:0040284 - Very rare | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | MYOC CL E G H | 4653 | 7610 | ORPHA:98977 | Juvenile glaucoma | | | | 47 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 7 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 26 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFAF3 CL E G H | 25915 | 29918 | OMIM:618240 | Mitochondrial complex I deficiency, nuclear type 18 | | | | 31 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 50 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 34 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFAF8 CL E G H | 284184 | 33551 | OMIM:618776 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34 | | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 3 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 9 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 16 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFC2 CL E G H | 4718 | 7706 | OMIM:619170 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36 | | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 81 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 65 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 22 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFS3 CL E G H | 4722 | 7710 | OMIM:618230 | Mitochondrial complex I deficiency, nuclear type 8 | | | | 22 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | . | | | 27 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 21 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 38 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 42 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 74 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040284 - Very rare | | | 32 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | . | | | 15 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 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:0000543 | HP:0000543 | Optic disc pallor | 0 | NR2F1 CL E G H | 7025 | 7975 | OMIM:615722 | Bosch-Boonstra-Schaaf optic atrophy syndrome | . | | | 37 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 89 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | | | | 214 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | | | | 214 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | OPA3 CL E G H | 80207 | 8142 | OMIM:165300 | OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3 | | | | 163 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | . | | | 73 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216866 | Classic pantothenate kinase-associated neurodegeneration | HP:0040282 - Frequent | | | 55 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | PARS2 CL E G H | 25973 | 30563 | OMIM:618437 | Epileptic encephalopathy, early infantile, 75 | | | | 14 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | PDE6A CL E G H | 5145 | 8785 | OMIM:613810 | RETINITIS PIGMENTOSA 43; RP43 | | | | 116 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | PDE6G CL E G H | 5148 | 8789 | OMIM:613582 | Retinitis pigmentosa 57 | . | | | 18 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | PISD CL E G H | 23761 | 8999 | OMIM:618889 | LIBERFARB SYNDROME; LIBF | | | | 1 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | PLK4 CL E G H | 10733 | 11397 | OMIM:616171 | Microcephaly and chorioretinopathy, autosomal recessive, 2 | HP:0040283 - Occasional | | | 11 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | PMPCB CL E G H | 9512 | 9119 | OMIM:617954 | Multiple mitochondrial dysfunctions syndrome 6 | HP:0040284 - Very rare | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | POC1B CL E G H | 282809 | 30836 | OMIM:615973 | Cone-Rod dystrophy 20 | | | | 3 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:617123 | RETINITIS PIGMENTOSA 76; RP76 | | | | 180 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | PRCD CL E G H | 768206 | 32528 | OMIM:610599 | Retinitis pigmentosa 36 | . | | | 39 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:612095 | RETINITIS PIGMENTOSA 41; RP41 | | | | 110 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | PRPF31 CL E G H | 26121 | 15446 | OMIM:600138 | Retinitis pigmentosa 11 | | | | 70 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | PRPF4 CL E G H | 9128 | 17349 | OMIM:615922 | Retinitis pigmentosa 70 | . | | | 2 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | RAX2 CL E G H | 84839 | 18286 | OMIM:620102 | | | | | 52 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | RBP3 CL E G H | 5949 | 9921 | OMIM:615233 | Retinitis pigmentosa 66 | HP:0040283 - Occasional | | | 108 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | RDH12 CL E G H | 145226 | 19977 | OMIM:612712 | Leber congenital amaurosis 13 | | | | 45 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | RIMS2 CL E G H | 9699 | 17283 | OMIM:618970 | CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS | | | | 2 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | RP1 CL E G H | 6101 | 10263 | OMIM:180100 | Retinitis pigmentosa 1 | | | | 111 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | RP1L1 CL E G H | 94137 | 15946 | OMIM:618826 | RETINITIS PIGMENTOSA 88; RP88 | | | | 284 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | RPE65 CL E G H | 6121 | 10294 | OMIM:204100 | Leber congenital amaurosis, type II | | | | 129 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 129 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:268315 | ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION | | | | 125 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | RTN4IP1 CL E G H | 84816 | 18647 | OMIM:616732 | OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10 | | | | 2 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | SCAPER CL E G H | 49855 | 13081 | OMIM:618195 | Intellectual developmental disorder and retinitis pigmentosa | . | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:619167 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3 | | | | 129 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | SMG8 CL E G H | 55181 | 25551 | OMIM:619268 | ALZAHRANI-KUWAHARA SYNDROME; ALKUS | | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | SNRNP200 CL E G H | 23020 | 30859 | OMIM:610359 | Retinitis pigmentosa 33 | | | | 83 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 48 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | SPG7 CL E G H | 6687 | 11237 | ORPHA:99013 | Spastic paraplegia type 7 | HP:0040283 - Occasional | | | 171 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | STX3 CL E G H | 6809 | 11438 | OMIM:619446 | RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID | | | | 1 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | TMEM106B CL E G H | 54664 | 22407 | OMIM:617964 | Leukodystrophy, hypomyelinating, 16 | | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | TMEM126A CL E G H | 84233 | 25382 | OMIM:612989 | Optic atrophy 7 with or without auditory neuropathy | | | | 23 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 4 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | TPI1 CL E G H | 7167 | 12009 | OMIM:615512 | Triosephosphate isomerase deficiency | HP:0040283 - Occasional | | | 28 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616959 | Retinitis pigmentosa and erythrocytic microcytosis | | | | 28 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | TUB CL E G H | 7275 | 12406 | OMIM:616188 | Retinal dystrophy and obesity | | | | 1 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | TUBB4B CL E G H | 10383 | 20771 | OMIM:617879 | Leber congenital amaurosis with early-onset deafness | | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | TUBGCP6 CL E G H | 85378 | 18127 | OMIM:251270 | Microcephaly and chorioretinopathy, autosomal recessive, 1 | . | | | 61 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:613843 | Leber congenital amaurosis 15 | . | | | 66 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:600132 | RETINITIS PIGMENTOSA 14; RP14 | | | | 66 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | . | | | 13 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | USP45 CL E G H | 85015 | 20080 | OMIM:618513 | LEBER CONGENITAL AMAUROSIS 19; LCA19 | | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | VPS41 CL E G H | 27072 | 12713 | OMIM:619389 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29 | | | | | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | VSX1 CL E G H | 30813 | 12723 | OMIM:614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | | | | 47 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:614296 | Wolfram-Like syndrome, autosomal dominant | | | | 389 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616469 | Retinitis pigmentosa 72 | . | | | 14 | | |
HP:0000543 | HP:0000543 | Optic disc pallor | 0 | ZNF513 CL E G H | 130557 | 26498 | OMIM:613617 | Retinitis pigmentosa 58 | . | | | 27 | | |
HP:0000543 | HP:0012512 | Diffuse optic disc pallor | 1 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | | | | 38 | | |
HP:0000543 | HP:0012512 | Diffuse optic disc pallor | 1 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | | | | 20 | | |
HP:0000543 | HP:0012512 | Diffuse optic disc pallor | 1 | CNGA3 CL E G H | 1261 | 2150 | OMIM:216900 | Achromatopsia 2 | | | | 82 | | |
HP:0000543 | HP:0012512 | Diffuse optic disc pallor | 1 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0000543 | HP:0012512 | Diffuse optic disc pallor | 1 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | | | | 193 | | |
HP:0000543 | HP:0012511 | Temporal optic disc pallor | 1 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:98977 | Juvenile glaucoma | HP:0040283 - Occasional | | | 101 | | |
HP:0000543 | HP:0012511 | Temporal optic disc pallor | 1 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040282 - Frequent | | | 94 | | |
HP:0000543 | HP:0012512 | Diffuse optic disc pallor | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040283 - Occasional | | | 38 | | |
HP:0000543 | HP:0012511 | Temporal optic disc pallor | 1 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:98977 | Juvenile glaucoma | HP:0040283 - Occasional | | | 54 | | |
HP:0000543 | HP:0012511 | Temporal optic disc pallor | 1 | MAG CL E G H | 4099 | 6783 | ORPHA:459056 | Autosomal recessive spastic paraplegia type 75 | HP:0040282 - Frequent | | | 4 | | |
HP:0000543 | HP:0012512 | Diffuse optic disc pallor | 1 | MMP19 CL E G H | 4327 | 7165 | OMIM:611543 | Cavitary optic disc anomalies | | | | 2 | | |
HP:0000543 | HP:0012511 | Temporal optic disc pallor | 1 | MYOC CL E G H | 4653 | 7610 | ORPHA:98977 | Juvenile glaucoma | HP:0040283 - Occasional | | | 47 | | |
HP:0000543 | HP:0012511 | Temporal optic disc pallor | 1 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | HP:0040283 - Occasional | | | 214 | | |
HP:0000543 | HP:0012511 | Temporal optic disc pallor | 1 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040282 - Frequent | | | 214 | | |
HP:0000543 | HP:0012512 | Diffuse optic disc pallor | 1 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:617123 | RETINITIS PIGMENTOSA 76; RP76 | | | | 180 | | |
HP:0000543 | HP:0012512 | Diffuse optic disc pallor | 1 | SCAPER CL E G H | 49855 | 13081 | OMIM:618195 | Intellectual developmental disorder and retinitis pigmentosa | | | | | | |
HP:0000543 | HP:0012512 | Diffuse optic disc pallor | 1 | TUB CL E G H | 7275 | 12406 | OMIM:616188 | Retinal dystrophy and obesity | | | | 1 | | |
HP:0000543 | HP:0012512 | Diffuse optic disc pallor | 1 | TUBB4B CL E G H | 10383 | 20771 | OMIM:617879 | Leber congenital amaurosis with early-onset deafness | | | | | | |
HP:0000543 | HP:0012512 | Diffuse optic disc pallor | 1 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616469 | Retinitis pigmentosa 72 | | | | 14 | | |
HP:0000543 | HP:0500086 | Optic nerve gray crescent | 2 | CL E G H | | | | | | | | | | |
HP:0000543 | HP:0500087 | Peripapillary atrophy | 2 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0000543 | HP:0500087 | Peripapillary atrophy | 2 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | HP:0040283 - Occasional | | | 20 | | |
HP:0000543 | HP:0500087 | Peripapillary atrophy | 2 | CNGA3 CL E G H | 1261 | 2150 | OMIM:216900 | Achromatopsia 2 | | | | 82 | | |
HP:0000543 | HP:0500087 | Peripapillary atrophy | 2 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | . | | | 177 | | |
HP:0000543 | HP:0500087 | Peripapillary atrophy | 2 | 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:0000543 | HP:0500087 | Peripapillary atrophy | 2 | MMP19 CL E G H | 4327 | 7165 | OMIM:611543 | Cavitary optic disc anomalies | HP:0040284 - Very rare | | | 2 | | |
HP:0000543 | HP:0500087 | Peripapillary atrophy | 2 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:617123 | RETINITIS PIGMENTOSA 76; RP76 | | | | 180 | | |
HP:0000543 | HP:0500087 | Peripapillary atrophy | 2 | SCAPER CL E G H | 49855 | 13081 | OMIM:618195 | Intellectual developmental disorder and retinitis pigmentosa | . | | | | | |
HP:0000543 | HP:0500087 | Peripapillary atrophy | 2 | TUB CL E G H | 7275 | 12406 | OMIM:616188 | Retinal dystrophy and obesity | . | | | 1 | | |
HP:0000543 | HP:0500087 | Peripapillary atrophy | 2 | TUBB4B CL E G H | 10383 | 20771 | OMIM:617879 | Leber congenital amaurosis with early-onset deafness | | | | | | |
HP:0000543 | HP:0500087 | Peripapillary atrophy | 2 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616469 | Retinitis pigmentosa 72 | HP:0040284 - Very rare | | | 14 | | |