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:0003676 | HP:0003676 | Progressive | 0 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | . | | | 57 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | AARS2 CL E G H | 57505 | 21022 | OMIM:615889 | Leukoencephalopathy, progressive, with ovarian failure | . | | | 143 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | . | | | 135 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ABCD3 CL E G H | 5825 | 67 | OMIM:616278 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 | | | | 5 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ACER3 CL E G H | 55331 | 16066 | OMIM:617762 | Leukodystrophy, progressive, early childhood-onset | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:182410 | Sneddon syndrome | . | | | 22 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | . | | | 4 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | . | | | 26 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:614487 | Spastic ataxia 5, autosomal recessive | . | | | 86 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | . | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | . | | | 60 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | AIMP1 CL E G H | 9255 | 10648 | OMIM:260600 | Leukodystrophy, hypomyelinating, 3 | . | | | 4 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | AIMP2 CL E G H | 7965 | 20609 | OMIM:618006 | Leukodystrophy, hypomyelinating, 17 | . | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | AKT1 CL E G H | 207 | 391 | OMIM:176920 | Proteus syndrome, somatic | . | | | 54 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616586 | Spastic paraplegia 9B, autosomal recessive | . | | | 89 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | . | | | 114 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:607225 | Spastic paralysis, infantile-onset ascending | . | | | 114 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:611307 | Muscular dystrophy, limb-girdle, type 2L | . | | | 304 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ANTXR2 CL E G H | 118429 | 21732 | OMIM:228600 | Hyaline fibromatosis syndrome | . | | | 49 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | AP5Z1 CL E G H | 9907 | 22197 | OMIM:613647 | Spastic paraplegia 48, autosomal recessive | . | | | 165 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:228000 | Farber lipogranulomatosis | . | | | 78 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:159950 | Spinal muscular atrophy with progressive myoclonic epilepsy | . | | | 78 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ASNS CL E G H | 440 | 753 | OMIM:615574 | Asparagine synthetase deficiency | . | | | 17 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ATAD1 CL E G H | 84896 | 25903 | OMIM:618011 | Hyperekplexia 4 | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ATL1 CL E G H | 51062 | 11231 | OMIM:613708 | Neuropathy, hereditary sensory, type ID | . | | | 71 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ATP11A CL E G H | 23250 | 13552 | OMIM:619810 | DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84 | | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | . | | | 11 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | | | | 14 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | B4GALNT1 CL E G H | 2583 | 4117 | OMIM:609195 | Spastic paraplegia 26, autosomal recessive | . | | | 25 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | . | | | 20 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:615924 | Encephalopathy, progressive, with or without lipodystrophy | . | | | 105 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | . | | | 114 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:183086 | Spinocerebellar ataxia 6 | . | | | 449 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | CAD CL E G H | 790 | 1424 | OMIM:616457 | Epileptic encephalopathy, early infantile, 50 | . | | | 10 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | CCNO CL E G H | 10309 | 18576 | OMIM:615872 | Ciliary dyskinesia, primary, 29 | . | | | 23 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | CERS1 CL E G H | 10715 | 14253 | OMIM:616230 | Epilepsy, progressive myoclonic, 8 | . | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | CFHR5 CL E G H | 81494 | 24668 | OMIM:614809 | Cfhr5 deficiency | . | | | 47 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | . | | | 11 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:616321 | Myasthenic syndrome, congenital, 3A, slow-channel | . | | | 88 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | . | | | 38 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | . | | | 16 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | COCH CL E G H | 1690 | 2180 | OMIM:601369 | Deafness, autosomal dominant 9 | . | | | 46 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:104200 | Alport syndrome, autosomal dominant | . | | | 161 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 161 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | COL4A4 CL E G H | 1286 | 2206 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 174 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | COL4A5 CL E G H | 1287 | 2207 | OMIM:301050 | Alport syndrome, X-linked | . | | | 678 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 442 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:255600 | Myosclerosis, autosomal recessive | . | | | 478 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 478 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 702 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | COPB2 CL E G H | 9276 | 2232 | OMIM:617800 | Microcephaly 19, primary, autosomal recessive | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | . | | | 54 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | COQ8B CL E G H | 79934 | 19041 | OMIM:615573 | Nephrotic syndrome, type 9 | . | | | 35 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | CRAT CL E G H | 1384 | 2342 | OMIM:617917 | Neurodegeneration with brain iron accumulation 8 | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | . | | | 149 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | . | | | 160 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | CTSF CL E G H | 8722 | 2531 | OMIM:615362 | Ceroid lipofuscinosis, neuronal, 13 | . | | | 20 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | . | | | 57 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | DARS1 CL E G H | 1615 | 2678 | OMIM:615281 | HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL | | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | DCDC2 CL E G H | 51473 | 18141 | OMIM:617394 | Sclerosing cholangitis, neonatal | . | | | 8 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | . | | | 29 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | DEGS1 CL E G H | 8560 | 13709 | OMIM:618404 | Leukodystrophy, hypomyelinating, 18 | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | DGKE CL E G H | 8526 | 2852 | OMIM:615008 | Nephrotic syndrome, type 7 | . | | | 17 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | DIABLO CL E G H | 56616 | 21528 | OMIM:614152 | Deafness, autosomal dominant 64 | . | | | 11 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | DMXL2 CL E G H | 23312 | 2938 | OMIM:617605 | DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71 | | | | 3 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | DNAJB11 CL E G H | 51726 | 14889 | OMIM:618061 | Polycystic kidney disease 6 with or without polycystic liver disease | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | . | | | 94 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | DNMT1 CL E G H | 1786 | 2976 | OMIM:604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | . | | | 145 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | DNMT1 CL E G H | 1786 | 2976 | OMIM:614116 | Neuropathy, hereditary sensory, type IE | . | | | 145 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | DRD3 CL E G H | 1814 | 3024 | OMIM:190300 | Tremor, hereditary essential, 1 | . | | | 21 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | . | | | 133 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ELP2 CL E G H | 55250 | 18248 | OMIM:617270 | Mental retardation, autosomal recessive 58 | . | | | 6 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | EMC1 CL E G H | 23065 | 28957 | OMIM:616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | . | | | 5 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ERLIN1 CL E G H | 10613 | 16947 | OMIM:615681 | Spastic paraplegia 62, autosomal recessive | . | | | 2 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ERLIN2 CL E G H | 11160 | 1356 | OMIM:611225 | Spastic paraplegia 18, autosomal recessive | . | | | 18 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | . | | | 76 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | FAN1 CL E G H | 22909 | 29170 | OMIM:614817 | Interstitial nephritis, karyomegalic | . | | | 15 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300696 | Myopathy, X-linked, with postural muscle atrophy | . | | | 68 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:611228 | Charcot-Marie-Tooth disease, type 4J | . | | | 111 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:611588 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | . | | | 184 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | FTL CL E G H | 2512 | 3999 | OMIM:606159 | Neurodegeneration with brain iron accumulation 3 | . | | | 33 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | . | | | 30 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | GEMIN5 CL E G H | 25929 | 20043 | OMIM:619333 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM | | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:166350 | Osseous heteroplasia, progressive | . | | | 101 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | . | | | 69 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | GOSR2 CL E G H | 9570 | 4431 | OMIM:614018 | Epilepsy, progressive myoclonic, 6 | . | | | 88 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | GPT2 CL E G H | 84706 | 18062 | OMIM:616281 | Mental retardation, autosomal recessive 49 | . | | | 4 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | GRHL2 CL E G H | 79977 | 2799 | OMIM:608641 | Deafness, autosomal dominant nonsyndromic sensorineural 28 | . | | | 33 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | HINT1 CL E G H | 3094 | 4912 | OMIM:137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | . | | | 12 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:605285 | Neuropathy, hereditary motor and sensory, Russe type | . | | | 11 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619027 | SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83 | | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | HSPD1 CL E G H | 3329 | 5261 | OMIM:605280 | Spastic paraplegia 13, autosomal dominant | . | | | 46 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | . | | | 16 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | INF2 CL E G H | 64423 | 23791 | OMIM:614455 | Charcot-Marie-Tooth disease, dominant intermediate E | . | | | 135 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | INPP5K CL E G H | 51763 | 33882 | OMIM:617404 | Muscular dystrophy, congenital, with cataracts and intellectual disability | . | | | 7 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | IREB2 CL E G H | 3658 | 6115 | OMIM:618451 | Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | IRF2BPL CL E G H | 64207 | 14282 | OMIM:618088 | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ISCA1 CL E G H | 81689 | 28660 | OMIM:617613 | Multiple mitochondrial dysfunctions syndrome 5 | . | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ISCA2 CL E G H | 122961 | 19857 | OMIM:616370 | Multiple mitochondrial dysfunctions syndrome 4 | . | | | 7 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | KCNC1 CL E G H | 3746 | 6233 | OMIM:616187 | Epilepsy, progressive myoclonic 7 | . | | | 6 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | KCNK3 CL E G H | 3777 | 6278 | OMIM:615344 | Pulmonary hypertension, primary, 4 | . | | | 7 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | KCNQ4 CL E G H | 9132 | 6298 | OMIM:600101 | Deafness, autosomal dominant nonsyndromic sensorineural 2 | . | | | 76 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | KCNT1 CL E G H | 57582 | 18865 | OMIM:614959 | Epileptic encephalopathy, early infantile, 14 | . | | | 321 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | KCTD17 CL E G H | 79734 | 25705 | OMIM:616398 | Dystonia 26, myoclonic | . | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | KCTD7 CL E G H | 154881 | 21957 | OMIM:611726 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | . | | | 106 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614255 | Mental retardation, autosomal dominant 9 | . | | | 276 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614213 | Neuropathy, hereditary sensory, type IIC | . | | | 276 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | KIF1C CL E G H | 10749 | 6317 | OMIM:611302 | Spastic ataxia 2, autosomal recessive | . | | | 38 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | KIF5A CL E G H | 3798 | 6323 | OMIM:604187 | Spastic paraplegia 10, autosomal dominant | . | | | 93 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | KLC2 CL E G H | 64837 | 20716 | OMIM:609541 | Spastic paraplegia, optic atrophy, and neuropathy | . | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:617284 | Dystonia 28, childhood-onset | . | | | 11 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | LAMB1 CL E G H | 3912 | 6486 | OMIM:615191 | Lissencephaly 5 | . | | | 71 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | LIMS2 CL E G H | 55679 | 16084 | OMIM:616827 | Muscular dystrophy, limb-girdle, type 2W | . | | | 10 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:616516 | Emery-Dreifuss muscular dystrophy 3, autosomal recessive | . | | | 645 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:613205 | Muscular dystrophy, congenital, lmna-related | . | | | 645 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:169500 | Leukodystrophy, adult-onset, autosomal dominant | . | | | 44 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | LMNB2 CL E G H | 84823 | 6638 | OMIM:616540 | Epilepsy, progressive myoclonic, 9 | . | | | 11 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | . | | | 10 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:155950 | Melorheostosis, isolated | . | | | 134 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MAPKBP1 CL E G H | 23005 | 29536 | OMIM:617271 | Nephronophthisis 20 | . | | | 6 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | . | | | 140 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MECR CL E G H | 51102 | 19691 | OMIM:617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | . | | | 6 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MED17 CL E G H | 9440 | 2375 | OMIM:613668 | Microcephaly, postnatal progressive, with seizures and brain atrophy | . | | | 23 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MFF CL E G H | 56947 | 24858 | OMIM:617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | . | | | 17 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MFSD2A CL E G H | 84879 | 25897 | OMIM:616486 | Microcephaly 15, primary, autosomal recessive | . | | | 5 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | . | | | 11 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | . | | | 96 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MOCS2 CL E G H | 4338 | 7193 | OMIM:252160 | Molybdenum cofactor deficiency, complementation group B | . | | | 26 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:618400 | Charcot-Marie-Tooth disease, axonal, type 2EE | . | | | 56 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | . | | | 56 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MRE11 CL E G H | 4361 | 7230 | OMIM:604391 | Ataxia-Telangiectasia-Like disorder 1 | . | | | 532 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MRPS34 CL E G H | 65993 | 16618 | OMIM:617664 | Combined oxidative phosphorylation deficiency 32 | . | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MTAP CL E G H | 4507 | 7413 | OMIM:112250 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | . | | | 85 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:613559 | Combined oxidative phosphorylation deficiency 7 | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MYH14 CL E G H | 79784 | 23212 | OMIM:614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | . | | | 227 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MYO1E CL E G H | 4643 | 7599 | OMIM:614131 | Focal segmental glomerulosclerosis 6 | . | | | 3 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | MYORG CL E G H | 57462 | 19918 | OMIM:618317 | Basal ganglia calcification, idiopathic, 7, autosomal recessive | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | NAGLU CL E G H | 4669 | 7632 | OMIM:616491 | Charcot-Marie-Tooth disease, axonal, type 2V | . | | | 72 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | . | | | 48 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | NBEAL2 CL E G H | 23218 | 31928 | OMIM:139090 | Gray platelet syndrome | . | | | 127 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | NDUFA12 CL E G H | 55967 | 23987 | OMIM:618244 | Mitochondrial complex I deficiency, nuclear type 23 | . | | | 7 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | NDUFAF2 CL E G H | 91942 | 28086 | OMIM:618233 | Mitochondrial complex I deficiency, nuclear type 10 | . | | | 26 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | NDUFB9 CL E G H | 4715 | 7704 | OMIM:618245 | Mitochondrial complex I deficiency, nuclear type 24 | . | | | 16 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | NDUFS1 CL E G H | 4719 | 7707 | OMIM:618226 | Mitochondrial complex I deficiency, nuclear type 5 | . | | | 81 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | NDUFS7 CL E G H | 374291 | 7714 | OMIM:618224 | Mitochondrial complex I deficiency, nuclear type 3 | . | | | 38 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | . | | | 24 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | NIPA1 CL E G H | 123606 | 17043 | OMIM:600363 | Spastic paraplegia 6, autosomal dominant | . | | | 117 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | NKX6-2 CL E G H | 84504 | 19321 | OMIM:617560 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | . | | | 2 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | NOP56 CL E G H | 10528 | 15911 | OMIM:614153 | Spinocerebellar ataxia 36 | | | | 9 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | . | | | 27 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | . | | | 5 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | . | | | 5 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | NUP133 CL E G H | 55746 | 18016 | OMIM:618177 | NEPHROTIC SYNDROME, TYPE 18; NPHS18 | | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | NUP160 CL E G H | 23279 | 18017 | OMIM:618178 | Nephrotic syndrome, type 19 | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | NUP214 CL E G H | 8021 | 8064 | OMIM:618426 | Encephalopathy, acute, infection-induced, susceptibility to, 9 | . | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | NUP85 CL E G H | 79902 | 8734 | OMIM:618176 | Nephrotic syndrome, type 17 | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | NUP93 CL E G H | 9688 | 28958 | OMIM:616892 | Nephrotic syndrome, type 12 | . | | | 5 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | . | | | 214 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:125250 | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | . | | | 214 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | OPTN CL E G H | 10133 | 17142 | OMIM:613435 | Amyotrophic lateral sclerosis 12 | | | | 62 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PABPN1 CL E G H | 8106 | 8565 | OMIM:164300 | Oculopharyngeal muscular dystrophy | . | | | 10 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PCLO CL E G H | 27445 | 13406 | OMIM:608027 | Pontocerebellar hypoplasia, type 3 | . | | | 6 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PCNA CL E G H | 5111 | 8729 | OMIM:615919 | Ataxia-Telangiectasia-Like disorder 2 | . | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 9 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:615483 | Basal ganglia calcification, idiopathic, 5 | . | | | 9 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 28 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PDXK CL E G H | 8566 | 8819 | OMIM:618511 | Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | . | | | 59 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | . | | | 77 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PIK3R5 CL E G H | 23533 | 30035 | OMIM:615217 | Ataxia-Oculomotor apraxia 3 | . | | | 11 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | . | | | 106 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | . | | | 133 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PLCE1 CL E G H | 51196 | 17175 | OMIM:610725 | Nephrotic syndrome, type 3 | . | | | 118 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PMPCB CL E G H | 9512 | 9119 | OMIM:617954 | Multiple mitochondrial dysfunctions syndrome 6 | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:215470 | Boucher-Neuhauser syndrome | | | | 103 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PNPLA8 CL E G H | 50640 | 28900 | OMIM:251950 | Mitochondrial myopathy with lactic acidosis | . | | | 3 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 464 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | . | | | 464 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | . | | | 45 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 138 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 67 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613157 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | . | | | 180 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PRDM8 CL E G H | 56978 | 13993 | OMIM:616640 | Epilepsy, progressive myoclonic, 10 | . | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PRICKLE1 CL E G H | 144165 | 17019 | OMIM:612437 | Epilepsy, progressive myoclonic 1B | . | | | 133 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PRKRA CL E G H | 8575 | 9438 | OMIM:612067 | Dystonia 16 | . | | | 37 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | . | | | 8 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PTRH2 CL E G H | 51651 | 24265 | OMIM:616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | . | | | 6 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PUM1 CL E G H | 9698 | 14957 | OMIM:617931 | Spinocerebellar ataxia 47 | . | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | PYCR2 CL E G H | 29920 | 30262 | OMIM:616420 | Leukodystrophy, hypomyelinating, 10 | . | | | 11 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | QARS1 CL E G H | 5859 | 9751 | OMIM:615760 | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | . | | | 93 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | . | | | 10 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | REPS1 CL E G H | 85021 | 15578 | OMIM:617916 | Neurodegeneration with brain iron accumulation 7 | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | RETREG1 CL E G H | 54463 | 25964 | OMIM:613115 | Neuropathy, hereditary sensory and autonomic, type IIB | . | | | 54 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | RNASEH1 CL E G H | 246243 | 18466 | OMIM:616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | . | | | 3 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | RNASEH2C CL E G H | 84153 | 24116 | OMIM:610329 | Aicardi-Goutieres syndrome 3 | . | | | 60 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:612075 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | . | | | 125 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | RTN2 CL E G H | 6253 | 10468 | OMIM:604805 | Spastic paraplegia 12, autosomal dominant | . | | | 25 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | RUBCN CL E G H | 9711 | 28991 | OMIM:615705 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15 | | | | 9 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SBF1 CL E G H | 6305 | 10542 | OMIM:615284 | Charcot-Marie-Tooth disease, type 4B3 | . | | | 16 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SEC61A1 CL E G H | 29927 | 18276 | OMIM:617056 | Tubulointerstitial kidney disease, autosomal dominant, 5 | . | | | 2 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | . | | | 162 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SGCA CL E G H | 6442 | 10805 | OMIM:608099 | Muscular dystrophy, limb-girdle, type 2D | . | | | 132 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | . | | | 8 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SIGMAR1 CL E G H | 10280 | 8157 | OMIM:605726 | Spinal muscular atrophy, distal, autosomal recessive, 2 | . | | | 6 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | . | | | 163 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC20A2 CL E G H | 6575 | 10947 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 70 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:609283 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | . | | | 68 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC33A1 CL E G H | 9197 | 95 | OMIM:614482 | Congenital cataracts, hearing loss, and neurodegeneration | . | | | 48 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | . | | | 5 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC44A4 CL E G H | 80736 | 13941 | OMIM:617606 | Deafness, autosomal dominant 72 | . | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | . | | | 47 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211530 | Brown-Vialetto-Van laere syndrome 1 | . | | | 51 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC6A3 CL E G H | 6531 | 11049 | OMIM:613135 | Parkinsonism-Dystonia, infantile, 1 | . | | | 13 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC9A1 CL E G H | 6548 | 11071 | OMIM:616291 | Lichtenstein-Knorr syndrome | . | | | 2 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SMAD9 CL E G H | 4093 | 6774 | OMIM:615342 | Pulmonary hypertension, primary, 2 | . | | | 132 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | . | | | 22 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | . | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:168601 | Parkinson disease 1, autosomal dominant | . | | | 65 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | . | | | 35 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SNORD118 CL E G H | 727676 | 32952 | OMIM:614561 | Leukoencephalopathy, brain calcifications, and cysts | . | | | 6 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SOST CL E G H | 50964 | 13771 | OMIM:122860 | Craniodiaphyseal dysplasia, autosomal dominant | . | | | 26 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | . | | | 7 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | . | | | 208 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | | | 287 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SPRY2 CL E G H | 10253 | 11270 | OMIM:616818 | Iga nephropathy, susceptibility to, 3 | . | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | . | | | 62 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | . | | | 62 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | . | | | 31 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | STUB1 CL E G H | 10273 | 11427 | OMIM:618093 | SPINOCEREBELLAR ATAXIA 48; SCA48 | | | | 14 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | STUB1 CL E G H | 10273 | 11427 | OMIM:615768 | Spinocerebellar ataxia, autosomal recessive 16 | . | | | 14 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:618484 | Arthrogryposis multiplex congenita, Myogenic type | . | | | 1129 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:615530 | Parkinson disease 20, early-onset | . | | | 9 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | . | | | 271 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:615338 | Epileptic encephalopathy, early infantile, 16 | . | | | 271 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:617207 | ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO | | | | 52 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TBK1 CL E G H | 29110 | 11584 | OMIM:616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | . | | | 20 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | . | | | 7 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | . | | | 7 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TFAM CL E G H | 7019 | 11741 | OMIM:617156 | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | . | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TJP2 CL E G H | 9414 | 11828 | OMIM:615878 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4 | | | | 149 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | . | | | 103 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:174810 | Familial expansile osteolysis | . | | | 72 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:602080 | Paget disease of bone 2, early-onset | . | | | 72 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | . | | | 44 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TRAK1 CL E G H | 22906 | 29947 | OMIM:618201 | Epileptic encephalopathy, early infantile, 68 | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TRAPPC12 CL E G H | 51112 | 24284 | OMIM:617669 | Encephalopathy, progressive, early-onset, with brain atrophy and spasticity | . | | | 2 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TRAPPC2L CL E G H | 51693 | 30887 | OMIM:618331 | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TRAPPC6B CL E G H | 122553 | 23066 | OMIM:617862 | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | . | | | 56 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TRPC3 CL E G H | 7222 | 12335 | OMIM:616410 | Spinocerebellar ataxia 41 | . | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TTN CL E G H | 7273 | 12403 | OMIM:608807 | Muscular dystrophy, limb-girdle, autosomal recessive 10 | . | | | 7128 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TTR CL E G H | 7276 | 12405 | OMIM:105210 | Amyloidosis, hereditary, transthyretin-related | . | | | 107 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TUBB4A CL E G H | 10382 | 20774 | OMIM:612438 | Leukodystrophy, hypomyelinating, 6 | . | | | 66 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | . | | | 113 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | . | | | 113 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TXN2 CL E G H | 25828 | 17772 | OMIM:616811 | Combined oxidative phosphorylation deficiency 29 | . | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 138 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | UBA5 CL E G H | 79876 | 23230 | OMIM:617133 | Spinocerebellar ataxia, autosomal recessive 24 | . | | | 13 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | UBQLN2 CL E G H | 29978 | 12509 | OMIM:300857 | Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia | . | | | 20 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | . | | | 21 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | UMOD CL E G H | 7369 | 12559 | OMIM:162000 | Hyperuricemic nephropathy, familial juvenile, 1 | . | | | 66 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | VAC14 CL E G H | 55697 | 25507 | OMIM:617054 | Striatonigral degeneration, childhood-onset | . | | | 6 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | . | | | | | |
HP:0003676 | HP:0003676 | Progressive | 0 | VCP CL E G H | 7415 | 12666 | OMIM:616687 | Charcot-Marie-Tooth disease, axonal, type 2Y | . | | | 63 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | . | | | 130 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | VPS13C CL E G H | 54832 | 23594 | OMIM:616840 | Parkinson disease 23, autosomal recessive early-onset | . | | | 8 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | VPS53 CL E G H | 55275 | 25608 | OMIM:615851 | Pontocerebellar hypoplasia, type 2E | | | | 26 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | . | | | 32 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:603563 | Spastic paraplegia 8, autosomal dominant | . | | | 83 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | WDR45B CL E G H | 56270 | 25072 | OMIM:617977 | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | . | | | 1 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:256370 | Nephrotic syndrome, type 4 | . | | | 177 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | XPR1 CL E G H | 9213 | 12827 | OMIM:616413 | Basal ganglia calcification, idiopathic, 6 | . | | | 4 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | XRCC1 CL E G H | 7515 | 12828 | OMIM:617633 | Spinocerebellar ataxia, autosomal recessive 26 | . | | | 4 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | YARS2 CL E G H | 51067 | 24249 | OMIM:613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | . | | | 45 | | |
HP:0003676 | HP:0003676 | Progressive | 0 | ZFYVE26 CL E G H | 23503 | 20761 | OMIM:270700 | Spastic paraplegia 15, autosomal recessive | . | | | 189 | | |