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:0003679 | HP:0003679 | Pace of progression | 0 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | | | | 57 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | AARS2 CL E G H | 57505 | 21022 | OMIM:615889 | Leukoencephalopathy, progressive, with ovarian failure | | | | 143 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | | | | 135 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ABCD3 CL E G H | 5825 | 67 | OMIM:616278 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 | | | | 5 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ABHD12 CL E G H | 26090 | 15868 | OMIM:612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | | | | 50 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ACER3 CL E G H | 55331 | 16066 | OMIM:617762 | Leukodystrophy, progressive, early childhood-onset | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:616852 | Myopathy, scapulohumeroperoneal | | | | 96 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ACTN4 CL E G H | 81 | 166 | OMIM:603278 | Focal segmental glomerulosclerosis 1 | | | | 27 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:182410 | Sneddon syndrome | | | | 22 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | | | | 4 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | | | | 26 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ADSS1 CL E G H | 122622 | 20093 | OMIM:617030 | Myopathy, distal, 5 | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:614487 | Spastic ataxia 5, autosomal recessive | | | | 86 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:610246 | Spinocerebellar ataxia 28 | | | | 86 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | | | | 60 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300614 | Deafness, X-linked 5 | | | | 60 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | AIMP1 CL E G H | 9255 | 10648 | OMIM:260600 | Leukodystrophy, hypomyelinating, 3 | | | | 4 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | AIMP2 CL E G H | 7965 | 20609 | OMIM:618006 | Leukodystrophy, hypomyelinating, 17 | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | AKT1 CL E G H | 207 | 391 | OMIM:176920 | Proteus syndrome, somatic | | | | 54 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:601162 | Spastic paraplegia 9A, autosomal dominant | | | | 89 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616586 | Spastic paraplegia 9B, autosomal recessive | | | | 89 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:616227 | Myasthenic syndrome, congenital, 15 | | | | 12 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:616228 | Myasthenic syndrome, congenital, 14 | | | | 46 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:606353 | Primary lateral sclerosis, juvenile | | | | 114 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:607225 | Spastic paralysis, infantile-onset ascending | | | | 114 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:611307 | Muscular dystrophy, limb-girdle, type 2L | | | | 304 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ANTXR2 CL E G H | 118429 | 21732 | OMIM:228600 | Hyaline fibromatosis syndrome | | | | 49 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | AP4B1 CL E G H | 10717 | 572 | OMIM:614066 | Spastic paraplegia 47, autosomal recessive | | | | 49 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | AP5Z1 CL E G H | 9907 | 22197 | OMIM:613647 | Spastic paraplegia 48, autosomal recessive | | | | 165 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | APOE CL E G H | 348 | 613 | OMIM:607822 | Alzheimer disease 3 | | | | 39 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | AR CL E G H | 367 | 644 | OMIM:313200 | Spinal and bulbar muscular atrophy, X-linked 1 | | | | 125 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ARHGDIA CL E G H | 396 | 678 | OMIM:615244 | Nephrotic syndrome, type 8 | | | | 3 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:228000 | Farber lipogranulomatosis | | | | 78 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:159950 | Spinal muscular atrophy with progressive myoclonic epilepsy | | | | 78 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ASNS CL E G H | 440 | 753 | OMIM:615574 | Asparagine synthetase deficiency | | | | 17 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ATAD1 CL E G H | 84896 | 25903 | OMIM:618011 | Hyperekplexia 4 | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ATG5 CL E G H | 9474 | 589 | OMIM:617584 | Spinocerebellar ataxia, autosomal recessive 25 | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ATL1 CL E G H | 51062 | 11231 | OMIM:613708 | Neuropathy, hereditary sensory, type ID | | | | 71 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | | | | 16 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ATP11A CL E G H | 23250 | 13552 | OMIM:619810 | DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84 | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ATP1A1 CL E G H | 476 | 799 | OMIM:618036 | Charcot-Marie-Tooth disease, axonal, type 2DD | | | | 4 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ATP2B3 CL E G H | 492 | 816 | OMIM:302500 | Spinocerebellar ataxia, X-linked 1 | | | | 19 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300911 | Parkinsonism with spasticity, X-linked | | | | 36 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ATP7A CL E G H | 538 | 869 | OMIM:300489 | Spinal muscular atrophy, distal, X-linked 3 | | | | 192 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | | | | 11 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | | | | 14 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | B4GALNT1 CL E G H | 2583 | 4117 | OMIM:609195 | Spastic paraplegia 26, autosomal recessive | | | | 25 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | | | | 204 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | | | | 20 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:615924 | Encephalopathy, progressive, with or without lipodystrophy | | | | 105 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | | | | 105 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | | | | 114 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:615043 | Spastic paraplegia 43, autosomal recessive | | | | 114 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | C9ORF72 CL E G H | 203228 | 28337 | OMIM:105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | | | | 56 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:183086 | Spinocerebellar ataxia 6 | | | | 449 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CAD CL E G H | 790 | 1424 | OMIM:616457 | Epileptic encephalopathy, early infantile, 50 | | | | 10 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CCDC88C CL E G H | 440193 | 19967 | OMIM:616053 | Spinocerebellar ataxia 40 | | | | 54 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CCNO CL E G H | 10309 | 18576 | OMIM:615872 | Ciliary dyskinesia, primary, 29 | | | | 23 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CERS1 CL E G H | 10715 | 14253 | OMIM:616230 | Epilepsy, progressive myoclonic, 8 | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CFHR5 CL E G H | 81494 | 24668 | OMIM:614809 | Cfhr5 deficiency | | | | 47 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CFL2 CL E G H | 1073 | 1875 | OMIM:610687 | Nemaline myopathy 7 | | | | 35 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | | | | 11 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:616209 | Myopathy, isolated mitochondrial, autosomal dominant | | | | 11 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615048 | Spinal muscular atrophy, Jokela type | | | | 11 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CHKB CL E G H | 1120 | 1938 | OMIM:602541 | Muscular dystrophy, congenital, Megaconial type | | | | 53 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:616321 | Myasthenic syndrome, congenital, 3A, slow-channel | | | | 88 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | | | | 139 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:308990 | Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis | | | | 112 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CLDN14 CL E G H | 23562 | 2035 | OMIM:614035 | Deafness, autosomal recessive 29 | | | | 57 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CLN8 CL E G H | 2055 | 2079 | OMIM:610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | | | | 111 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COA7 CL E G H | 65260 | 25716 | OMIM:618387 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | | | | 16 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COCH CL E G H | 1690 | 2180 | OMIM:601369 | Deafness, autosomal dominant 9 | | | | 46 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:104200 | Alport syndrome, autosomal dominant | | | | 161 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:203780 | Alport syndrome, autosomal recessive | | | | 161 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:141200 | Hematuria, benign familial | | | | 161 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COL4A4 CL E G H | 1286 | 2206 | OMIM:203780 | Alport syndrome, autosomal recessive | | | | 174 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COL4A4 CL E G H | 1286 | 2206 | OMIM:141200 | Hematuria, benign familial | | | | 174 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COL4A5 CL E G H | 1287 | 2207 | OMIM:301050 | Alport syndrome, X-linked | | | | 678 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:158810 | Bethlem myopathy 1 | | | | 442 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 442 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:158810 | Bethlem myopathy 1 | | | | 478 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:255600 | Myosclerosis, autosomal recessive | | | | 478 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 478 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:158810 | Bethlem myopathy 1 | | | | 702 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 702 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COPB2 CL E G H | 9276 | 2232 | OMIM:617800 | Microcephaly 19, primary, autosomal recessive | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | | | | 54 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COQ6 CL E G H | 51004 | 20233 | OMIM:614650 | Coenzyme Q10 deficiency, primary, 6 | | | | 39 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COQ8B CL E G H | 79934 | 19041 | OMIM:615573 | Nephrotic syndrome, type 9 | | | | 35 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | COX6A1 CL E G H | 1337 | 2277 | OMIM:616039 | Charcot-Marie-Tooth disease, recessive intermediate D | | | | 4 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CPT1C CL E G H | 126129 | 18540 | OMIM:616282 | Spastic paraplegia 73, autosomal dominant | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CRAT CL E G H | 1384 | 2342 | OMIM:617917 | Neurodegeneration with brain iron accumulation 8 | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CRPPA CL E G H | 729920 | 37276 | OMIM:616052 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:608810 | Myopathy, myofibrillar, 2, mfm2 | | | | 46 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:613869 | Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related | | | | 46 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | | | | 149 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:221820 | Leukoencephalopathy, diffuse hereditary, with spheroids | | | | 149 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | | | | 160 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CTSF CL E G H | 8722 | 2531 | OMIM:615362 | Ceroid lipofuscinosis, neuronal, 13 | | | | 20 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | | | | 9 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | | | | 57 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DAB1 CL E G H | 1600 | 2661 | OMIM:615945 | Spinocerebellar ataxia 37 | | | | 4 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DARS1 CL E G H | 1615 | 2678 | OMIM:615281 | HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DARS2 CL E G H | 55157 | 25538 | OMIM:611105 | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation | | | | 60 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DCDC2 CL E G H | 51473 | 18141 | OMIM:617394 | Sclerosing cholangitis, neonatal | | | | 8 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:607641 | Neuronopathy, distal hereditary motor, type VIIB | | | | 86 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | | | | 86 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DDHD1 CL E G H | 80821 | 19714 | OMIM:609340 | Spastic paraplegia 28, autosomal recessive | | | | 35 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | | | | 29 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DEGS1 CL E G H | 8560 | 13709 | OMIM:618404 | Leukodystrophy, hypomyelinating, 18 | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DGKE CL E G H | 8526 | 2852 | OMIM:615008 | Nephrotic syndrome, type 7 | | | | 17 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DIABLO CL E G H | 56616 | 21528 | OMIM:614152 | Deafness, autosomal dominant 64 | | | | 11 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DMXL2 CL E G H | 23312 | 2938 | OMIM:617605 | DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71 | | | | 3 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DNA2 CL E G H | 1763 | 2939 | OMIM:615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6 | | | | 41 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DNAJB11 CL E G H | 51726 | 14889 | OMIM:618061 | Polycystic kidney disease 6 with or without polycystic liver disease | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DNAJB2 CL E G H | 3300 | 5228 | OMIM:614881 | Spinal muscular atrophy, distal, autosomal recessive, 5 | | | | 30 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DNAJB6 CL E G H | 10049 | 14888 | OMIM:603511 | Muscular dystrophy, limb-girdle, type 1E | | | | 103 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DNAJC5 CL E G H | 80331 | 16235 | OMIM:162350 | Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant | | | | 155 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DNAJC6 CL E G H | 9829 | 15469 | OMIM:615528 | Parkinson disease 19a, juvenile-onset | | | | 6 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | | | | 94 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:610708 | Optic atrophy 5 | | | | 94 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DNMT1 CL E G H | 1786 | 2976 | OMIM:604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | | | | 145 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DNMT1 CL E G H | 1786 | 2976 | OMIM:614116 | Neuropathy, hereditary sensory, type IE | | | | 145 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:614750 | Myasthenic syndrome, congenital, 13, with tubular aggregates | | | | 38 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | | | | 27 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DRD3 CL E G H | 1814 | 3024 | OMIM:190300 | Tremor, hereditary essential, 1 | | | | 21 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614228 | Charcot-marie-tooth disease, axonal, type 2O | | | | 427 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:158600 | Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant | | | | 427 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:253601 | Muscular dystrophy, limb-girdle, type 2B | | | | 600 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:606768 | Myopathy, distal, with anterior tibial onset | | | | 600 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | DZIP1L CL E G H | 199221 | 26551 | OMIM:617610 | Polycystic kidney disease 5 | | | | 4 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | EEF2 CL E G H | 1938 | 3214 | OMIM:609306 | Spinocerebellar ataxia 26 | | | | 4 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ELOVL5 CL E G H | 60481 | 21308 | OMIM:615957 | Spinocerebellar ataxia 38 | | | | 4 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | | | | 133 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ELP2 CL E G H | 55250 | 18248 | OMIM:617270 | Mental retardation, autosomal recessive 58 | | | | 6 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | EMC1 CL E G H | 23065 | 28957 | OMIM:616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | | | | 5 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | EMD CL E G H | 2010 | 3331 | OMIM:310300 | Emery-Dreifuss muscular dystrophy 1, X-linked | | | | 107 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | EPM2A CL E G H | 7957 | 3413 | OMIM:254780 | Myoclonic epilepsy of lafora | | | | 83 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ERLIN1 CL E G H | 10613 | 16947 | OMIM:615681 | Spastic paraplegia 62, autosomal recessive | | | | 2 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ERLIN2 CL E G H | 11160 | 1356 | OMIM:611225 | Spastic paraplegia 18, autosomal recessive | | | | 18 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | | | | 76 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | FAN1 CL E G H | 22909 | 29170 | OMIM:614817 | Interstitial nephritis, karyomegalic | | | | 15 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | FARS2 CL E G H | 10667 | 21062 | OMIM:617046 | Spastic paraplegia 77, autosomal recessive | | | | 36 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | FAT2 CL E G H | 2196 | 3596 | OMIM:617769 | Spinocerebellar ataxia 45 | | | | 2 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | | | | 36 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | FGF14 CL E G H | 2259 | 3671 | OMIM:193003 | Nystagmus 4, congenital, autosomal dominant | | | | 47 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300718 | Myopathy, reducing body, X-linked, childhood-onset | | | | 68 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300717 | Myopathy, reducing body, X-linked, early-onset, severe | | | | 68 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300696 | Myopathy, X-linked, with postural muscle atrophy | | | | 68 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:611228 | Charcot-Marie-Tooth disease, type 4J | | | | 111 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:611588 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | | | | 184 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:609524 | Filaminopathy, autosomal dominant | | | | 197 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:614065 | Myopathy, distal, 4 | | | | 197 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | FN1 CL E G H | 2335 | 3778 | OMIM:601894 | Glomerulopathy with fibronectin deposits 2 | | | | 9 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | FRG1 CL E G H | 2483 | 3954 | OMIM:158900 | Facioscapulohumeral muscular dystrophy 1 | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | FTL CL E G H | 2512 | 3999 | OMIM:606159 | Neurodegeneration with brain iron accumulation 3 | | | | 33 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | FZD4 CL E G H | 8322 | 4042 | OMIM:133780 | Exudative vitreoretinopathy 1 | | | | 109 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | FZD6 CL E G H | 8323 | 4044 | OMIM:161050 | Nail disorder, nonsyndromic congenital, 1 | | | | 3 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GAN CL E G H | 8139 | 4137 | OMIM:256850 | Giant axonal neuropathy 1, autosomal recessive | | | | 121 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:601472 | Charcot-Marie-Tooth disease, axonal, type 2D | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:600794 | Neuronopathy, distal hereditary motor, type VA | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | | | | 30 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:263570 | Polyglucosan body neuropathy, adult form | | | | 86 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:214400 | Charcot-Marie-Tooth disease, type 4A | | | | 108 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GDAP2 CL E G H | 54834 | 18010 | OMIM:618369 | Spinocerebellar ataxia, autosomal recessive 27 | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GEMIN5 CL E G H | 25929 | 20043 | OMIM:619333 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | | | | 128 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | | | 107 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:166350 | Osseous heteroplasia, progressive | | | | 101 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GNB4 CL E G H | 59345 | 20731 | OMIM:615185 | Charcot-Marie-Tooth disease, dominant intermediate F | | | | 12 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GOSR2 CL E G H | 9570 | 4431 | OMIM:614018 | Epilepsy, progressive myoclonic, 6 | | | | 88 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GPT2 CL E G H | 84706 | 18062 | OMIM:616281 | Mental retardation, autosomal recessive 49 | | | | 4 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GRHL2 CL E G H | 79977 | 2799 | OMIM:608641 | Deafness, autosomal dominant nonsyndromic sensorineural 28 | | | | 33 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GRM1 CL E G H | 2911 | 4593 | OMIM:617691 | SPINOCEREBELLAR ATAXIA 44; SCA44 | | | | 8 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GRM1 CL E G H | 2911 | 4593 | OMIM:614831 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 | | | | 8 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GRN CL E G H | 2896 | 4601 | OMIM:614706 | Ceroid lipofuscinosis, neuronal, 11 | | | | 126 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | GYG1 CL E G H | 2992 | 4699 | OMIM:616199 | Polyglucosan body myopathy 2 | | | | 18 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | HEPACAM CL E G H | 220296 | 26361 | OMIM:613925 | Megalencephalic leukoencephalopathy with subcortical cysts 2A | | | | 82 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | HINT1 CL E G H | 3094 | 4912 | OMIM:137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | | | | 12 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:605285 | Neuropathy, hereditary motor and sensory, Russe type | | | | 11 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:123400 | Creutzfeldt-Jakob disease | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | HNRNPDL CL E G H | 9987 | 5037 | OMIM:609115 | Limb-girdle muscular dystrophy, type 1G | | | | 5 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | HOXB1 CL E G H | 3211 | 5111 | OMIM:614744 | Facial paresis, hereditary congenital, 3 | | | | 2 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | HPCA CL E G H | 3208 | 5144 | OMIM:224500 | Dystonia 2, torsion, autosomal recessive | | | | 4 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619027 | SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83 | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | HSPB1 CL E G H | 3315 | 5246 | OMIM:608634 | Neuronopathy, distal hereditary motor, type IIB | | | | 47 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | HSPB3 CL E G H | 8988 | 5248 | OMIM:613376 | Neuronopathy, distal hereditary motor, type IIC | | | | 13 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | HSPD1 CL E G H | 3329 | 5261 | OMIM:605280 | Spastic paraplegia 13, autosomal dominant | | | | 46 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | | | | 16 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | IBA57 CL E G H | 200205 | 27302 | OMIM:616451 | Spastic paraplegia 74, autosomal recessive | | | | 16 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:616155 | Charcot-Marie-Tooth disease, axonal, type 2S | | | | 209 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ILDR1 CL E G H | 286676 | 28741 | OMIM:609646 | Deafness, neurosensory, autosomal recessive 42 | | | | 42 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | INF2 CL E G H | 64423 | 23791 | OMIM:614455 | Charcot-Marie-Tooth disease, dominant intermediate E | | | | 135 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | INPP5K CL E G H | 51763 | 33882 | OMIM:617404 | Muscular dystrophy, congenital, with cataracts and intellectual disability | | | | 7 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | IREB2 CL E G H | 3658 | 6115 | OMIM:618451 | Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | IRF2BPL CL E G H | 64207 | 14282 | OMIM:618088 | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ISCA1 CL E G H | 81689 | 28660 | OMIM:617613 | Multiple mitochondrial dysfunctions syndrome 5 | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ISCA2 CL E G H | 122961 | 19857 | OMIM:616370 | Multiple mitochondrial dysfunctions syndrome 4 | | | | 7 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:606658 | Spinocerebellar ataxia 15 | | | | 177 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | KBTBD13 CL E G H | 390594 | 37227 | OMIM:609273 | Nemaline myopathy 6 | | | | 80 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | KCNC1 CL E G H | 3746 | 6233 | OMIM:616187 | Epilepsy, progressive myoclonic 7 | | | | 6 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | KCNC3 CL E G H | 3748 | 6235 | OMIM:605259 | Spinocerebellar ataxia 13 | | | | 17 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | KCND3 CL E G H | 3752 | 6239 | OMIM:607346 | Spinocerebellar ataxia 19 | | | | 35 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | KCNK3 CL E G H | 3777 | 6278 | OMIM:615344 | Pulmonary hypertension, primary, 4 | | | | 7 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | KCNQ4 CL E G H | 9132 | 6298 | OMIM:600101 | Deafness, autosomal dominant nonsyndromic sensorineural 2 | | | | 76 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | KCNT1 CL E G H | 57582 | 18865 | OMIM:614959 | Epileptic encephalopathy, early infantile, 14 | | | | 321 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | KCTD17 CL E G H | 79734 | 25705 | OMIM:616398 | Dystonia 26, myoclonic | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | KCTD7 CL E G H | 154881 | 21957 | OMIM:611726 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | | | | 106 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614255 | Mental retardation, autosomal dominant 9 | | | | 276 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | KIF1A CL E G H | 547 | 888 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 276 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614213 | Neuropathy, hereditary sensory, type IIC | | | | 276 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | KIF1A CL E G H | 547 | 888 | OMIM:610357 | Spastic paraplegia 30, autosomal recessive | | | | 276 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:118210 | Charcot-Marie-Tooth disease, axonal, type 2A1 | | | | 202 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | KIF1C CL E G H | 10749 | 6317 | OMIM:611302 | Spastic ataxia 2, autosomal recessive | | | | 38 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | KIF5A CL E G H | 3798 | 6323 | OMIM:604187 | Spastic paraplegia 10, autosomal dominant | | | | 93 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | KLC2 CL E G H | 64837 | 20716 | OMIM:609541 | Spastic paraplegia, optic atrophy, and neuropathy | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:617284 | Dystonia 28, childhood-onset | | | | 11 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | KRT12 CL E G H | 3859 | 6414 | OMIM:122100 | Meesmann corneal dystrophy 1 | | | | 22 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | LAMB1 CL E G H | 3912 | 6486 | OMIM:615191 | Lissencephaly 5 | | | | 71 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | LIMS2 CL E G H | 55679 | 16084 | OMIM:616827 | Muscular dystrophy, limb-girdle, type 2W | | | | 10 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | | | | 645 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:616516 | Emery-Dreifuss muscular dystrophy 3, autosomal recessive | | | | 645 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:613205 | Muscular dystrophy, congenital, lmna-related | | | | 645 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:169500 | Leukodystrophy, adult-onset, autosomal dominant | | | | 44 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | LMNB2 CL E G H | 84823 | 6638 | OMIM:616540 | Epilepsy, progressive myoclonic, 9 | | | | 11 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:133780 | Exudative vitreoretinopathy 1 | | | | 125 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | LRRK2 CL E G H | 120892 | 18618 | OMIM:607060 | Parkinson disease 8, autosomal dominant | | | | 221 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | LRSAM1 CL E G H | 90678 | 25135 | OMIM:614436 | Charcot-Marie-Tooth disease, axonal, type 2P | | | | 102 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | | | | 10 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MAG CL E G H | 4099 | 6783 | OMIM:616680 | Spastic paraplegia 75, autosomal recessive | | | | 4 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:155950 | Melorheostosis, isolated | | | | 134 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MAP3K20 CL E G H | 51776 | 17797 | OMIM:617760 | Myopathy, centronuclear, 6, with fiber-type disproportion | | | | 2 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MAPKBP1 CL E G H | 23005 | 29536 | OMIM:617271 | Nephronophthisis 20 | | | | 6 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | | | | 140 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MARCHF6 CL E G H | 10299 | 30550 | OMIM:613608 | Epilepsy, familial adult myoclonic, 3 | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:616280 | Charcot-Marie-Tooth disease, axonal, type 2U | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MCM2 CL E G H | 4171 | 6944 | OMIM:616968 | Deafness, autosomal dominant 70 | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MCM3AP CL E G H | 8888 | 6946 | OMIM:618124 | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | | | | 3 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MECR CL E G H | 51102 | 19691 | OMIM:617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | | | | 6 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MED17 CL E G H | 9440 | 2375 | OMIM:613668 | Microcephaly, postnatal progressive, with seizures and brain atrophy | | | | 23 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MFF CL E G H | 56947 | 24858 | OMIM:617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | | | | 17 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | | | | 203 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MFSD2A CL E G H | 84879 | 25897 | OMIM:616486 | Microcephaly 15, primary, autosomal recessive | | | | 5 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MFSD8 CL E G H | 256471 | 28486 | OMIM:610951 | Ceroid lipofuscinosis, neuronal, 7 | | | | 120 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | | | | 11 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MME CL E G H | 4311 | 7154 | OMIM:617017 | Charcot-Marie-Tooth disease, axonal, type 2T | | | | 18 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MME CL E G H | 4311 | 7154 | OMIM:617018 | SPINOCEREBELLAR ATAXIA 43; SCA43 | | | | 18 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | | | | 96 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MOCS2 CL E G H | 4338 | 7193 | OMIM:252160 | Molybdenum cofactor deficiency, complementation group B | | | | 26 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:618400 | Charcot-Marie-Tooth disease, axonal, type 2EE | | | | 56 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:118200 | Charcot-Marie-Tooth disease, demyelinating, type 1B | | | | 134 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | | | | 134 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MRE11 CL E G H | 4361 | 7230 | OMIM:604391 | Ataxia-Telangiectasia-Like disorder 1 | | | | 532 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MRPS34 CL E G H | 65993 | 16618 | OMIM:617664 | Combined oxidative phosphorylation deficiency 32 | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MTAP CL E G H | 4507 | 7413 | OMIM:112250 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | | | | 85 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MTPAP CL E G H | 55149 | 25532 | OMIM:613672 | Spastic ataxia 4, autosomal recessive | | | | 19 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:613559 | Combined oxidative phosphorylation deficiency 7 | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MYH14 CL E G H | 79784 | 23212 | OMIM:614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | | | | 227 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:160500 | Myopathy, distal, 1 | | | | 1269 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:608358 | Myopathy, myosin storage | | | | 1269 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | | | | 1269 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:181430 | Scapuloperoneal myopathy, myh7-related | | | | 1269 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | | | | 5 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MYO1E CL E G H | 4643 | 7599 | OMIM:614131 | Focal segmental glomerulosclerosis 6 | | | | 3 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MYORG CL E G H | 57462 | 19918 | OMIM:618317 | Basal ganglia calcification, idiopathic, 7, autosomal recessive | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MYOT CL E G H | 9499 | 12399 | OMIM:182920 | Myopathy, spheroid body | | | | 75 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MYOT CL E G H | 9499 | 12399 | OMIM:609200 | MYOTILINOPATHY | | | | 75 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | MYPN CL E G H | 84665 | 23246 | OMIM:617336 | Nemaline myopathy 11, autosomal recessive | | | | 217 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NAGLU CL E G H | 4669 | 7632 | OMIM:616491 | Charcot-Marie-Tooth disease, axonal, type 2V | | | | 72 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | | | | 48 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NAXE CL E G H | 128240 | 18453 | OMIM:617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | | | | 9 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NBEAL2 CL E G H | 23218 | 31928 | OMIM:139090 | Gray platelet syndrome | | | | 127 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NDUFA12 CL E G H | 55967 | 23987 | OMIM:618244 | Mitochondrial complex I deficiency, nuclear type 23 | | | | 7 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NDUFA13 CL E G H | 51079 | 17194 | OMIM:618249 | Mitochondrial complex I deficiency, nuclear type 28 | | | | 3 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NDUFAF2 CL E G H | 91942 | 28086 | OMIM:618233 | Mitochondrial complex I deficiency, nuclear type 10 | | | | 26 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NDUFB9 CL E G H | 4715 | 7704 | OMIM:618245 | Mitochondrial complex I deficiency, nuclear type 24 | | | | 16 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NDUFS1 CL E G H | 4719 | 7707 | OMIM:618226 | Mitochondrial complex I deficiency, nuclear type 5 | | | | 81 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NDUFS7 CL E G H | 374291 | 7714 | OMIM:618224 | Mitochondrial complex I deficiency, nuclear type 3 | | | | 38 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | | | | 24 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:617882 | Charcot-Marie-Tooth disease, dominant intermediate G | | | | 118 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NHLRC1 CL E G H | 378884 | 21576 | OMIM:254780 | Myoclonic epilepsy of lafora | | | | 77 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NIPA1 CL E G H | 123606 | 17043 | OMIM:600363 | Spastic paraplegia 6, autosomal dominant | | | | 117 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NKX6-2 CL E G H | 84504 | 19321 | OMIM:617560 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | | | | 2 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:617772 | Deafness, autosomal dominant 34, with or without inflammation | | | | 217 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NOL3 CL E G H | 8996 | 7869 | OMIM:614937 | Myoclonus, familial cortical | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NOP56 CL E G H | 10528 | 15911 | OMIM:614153 | Spinocerebellar ataxia 36 | | | | 9 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NPHS1 CL E G H | 4868 | 7908 | OMIM:256300 | Nephrotic syndrome, type 1 | | | | 241 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NPHS2 CL E G H | 7827 | 13394 | OMIM:600995 | Nephrotic syndrome, type 2 | | | | 69 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | | | | 27 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | | | | 5 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | | | | 5 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NUP133 CL E G H | 55746 | 18016 | OMIM:618177 | NEPHROTIC SYNDROME, TYPE 18; NPHS18 | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NUP160 CL E G H | 23279 | 18017 | OMIM:618178 | Nephrotic syndrome, type 19 | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NUP214 CL E G H | 8021 | 8064 | OMIM:618426 | Encephalopathy, acute, infection-induced, susceptibility to, 9 | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NUP85 CL E G H | 79902 | 8734 | OMIM:618176 | Nephrotic syndrome, type 17 | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | NUP93 CL E G H | 9688 | 28958 | OMIM:616892 | Nephrotic syndrome, type 12 | | | | 5 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | | | | 214 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:125250 | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | | | | 214 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | OPTN CL E G H | 10133 | 17142 | OMIM:613435 | Amyotrophic lateral sclerosis 12 | | | | 62 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ORAI1 CL E G H | 84876 | 25896 | OMIM:615883 | Myopathy, tubular aggregate, 2 | | | | 19 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PABPN1 CL E G H | 8106 | 8565 | OMIM:164300 | Oculopharyngeal muscular dystrophy | | | | 10 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration | | | | 55 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | | | | 55 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PARK7 CL E G H | 11315 | 16369 | OMIM:606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | | | | 23 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PCLO CL E G H | 27445 | 13406 | OMIM:608027 | Pontocerebellar hypoplasia, type 3 | | | | 6 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PCNA CL E G H | 5111 | 8729 | OMIM:615919 | Ataxia-Telangiectasia-Like disorder 2 | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PDE10A CL E G H | 10846 | 8772 | OMIM:616922 | Striatal degeneration, autosomal dominant 2 | | | | 5 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PDE8B CL E G H | 8622 | 8794 | OMIM:609161 | Striatal degeneration, autosomal dominant | | | | 75 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 9 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:615483 | Basal ganglia calcification, idiopathic, 5 | | | | 9 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 28 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PDK3 CL E G H | 5165 | 8811 | OMIM:300905 | Charcot-Marie-Tooth disease, X-linked dominant, 6 | | | | 4 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PDXK CL E G H | 8566 | 8819 | OMIM:618511 | Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PDYN CL E G H | 5173 | 8820 | OMIM:610245 | Spinocerebellar ataxia 23 | | | | 52 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614870 | Peroxisome biogenesis disorder 6A (Zellweger) | | | | 75 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | | | | 75 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | | | | 59 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614867 | Peroxisome biogenesis disorder 5B | | | | 82 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | | | | 77 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PIK3R5 CL E G H | 23533 | 30035 | OMIM:615217 | Ataxia-Oculomotor apraxia 3 | | | | 11 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PINK1 CL E G H | 65018 | 14581 | OMIM:605909 | Parkinson disease 6, autosomal recessive early-onset | | | | 55 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | | | | 106 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | | | | 133 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PLCE1 CL E G H | 51196 | 17175 | OMIM:610725 | Nephrotic syndrome, type 3 | | | | 118 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PLD3 CL E G H | 23646 | 17158 | OMIM:617770 | Spinocerebellar ataxia 46 | | | | 2 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:613723 | Muscular dystrophy, limb-girdle, type 2Q | | | | 759 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:611067 | Spinal muscular atrophy, distal, autosomal recessive, 4 | | | | 186 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PMP2 CL E G H | 5375 | 9117 | OMIM:618279 | Charcot-Marie-Tooth disease, demyelinating, type 1G | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:118220 | Charcot-Marie-Tooth disease, demyelinating, type 1A | | | | 79 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | | | | 79 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PMPCA CL E G H | 23203 | 18667 | OMIM:213200 | Spinocerebellar ataxia, autosomal recessive 2 | | | | 7 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PMPCB CL E G H | 9512 | 9119 | OMIM:617954 | Multiple mitochondrial dysfunctions syndrome 6 | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PNKP CL E G H | 11284 | 9154 | OMIM:616267 | Ataxia-Oculomotor apraxia 4 | | | | 244 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | | | | 65 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:215470 | Boucher-Neuhauser syndrome | | | | 103 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PNPLA8 CL E G H | 50640 | 28900 | OMIM:251950 | Mitochondrial myopathy with lactic acidosis | | | | 3 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | POGLUT1 CL E G H | 56983 | 22954 | OMIM:617232 | Muscular dystrophy, limb-girdle, type 2Z | | | | 6 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 464 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | POLG CL E G H | 5428 | 9179 | OMIM:203700 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | | | | 464 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | | | | 464 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | | | | 464 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | | | | 45 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 138 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 67 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613157 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | | | | 180 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:609308 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | | | | 213 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PRDM8 CL E G H | 56978 | 13993 | OMIM:616640 | Epilepsy, progressive myoclonic, 10 | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PRICKLE1 CL E G H | 144165 | 17019 | OMIM:612437 | Epilepsy, progressive myoclonic 1B | | | | 133 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PRKCG CL E G H | 5582 | 9402 | OMIM:605361 | Spinocerebellar ataxia 14 | | | | 83 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PRKRA CL E G H | 8575 | 9438 | OMIM:612067 | Dystonia 16 | | | | 37 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:123400 | Creutzfeldt-Jakob disease | | | | 69 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:137440 | Gerstmann-Straussler disease | | | | 69 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | | | | 8 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | | | | 170 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:607822 | Alzheimer disease 3 | | | | 241 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PTRH2 CL E G H | 51651 | 24265 | OMIM:616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | | | | 6 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PUM1 CL E G H | 9698 | 14957 | OMIM:617931 | Spinocerebellar ataxia 47 | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PYCR2 CL E G H | 29920 | 30262 | OMIM:616420 | Leukodystrophy, hypomyelinating, 10 | | | | 11 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | QARS1 CL E G H | 5859 | 9751 | OMIM:615760 | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | | | | 93 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | | | | 10 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | REEP2 CL E G H | 51308 | 17975 | OMIM:615625 | Spastic paraplegia 72, autosomal recessive | | | | 3 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | REPS1 CL E G H | 85021 | 15578 | OMIM:617916 | Neurodegeneration with brain iron accumulation 7 | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | RETREG1 CL E G H | 54463 | 25964 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 54 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | RETREG1 CL E G H | 54463 | 25964 | OMIM:613115 | Neuropathy, hereditary sensory and autonomic, type IIB | | | | 54 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | RNASEH1 CL E G H | 246243 | 18466 | OMIM:616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | | | | 3 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | RNASEH2C CL E G H | 84153 | 24116 | OMIM:610329 | Aicardi-Goutieres syndrome 3 | | | | 60 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | RNASET2 CL E G H | 8635 | 21686 | OMIM:612951 | Leukoencephalopathy, cystic, without megalencephaly | | | | 37 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:612075 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | | | | 125 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | RTN2 CL E G H | 6253 | 10468 | OMIM:604805 | Spastic paraplegia 12, autosomal dominant | | | | 25 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | RUBCN CL E G H | 9711 | 28991 | OMIM:615705 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15 | | | | 9 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:117000 | Central core disease | | | | 1200 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SAMD12 CL E G H | 401474 | 31750 | OMIM:601068 | Epilepsy, familial adult myoclonic, 1 | | | | 2 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SBF1 CL E G H | 6305 | 10542 | OMIM:615284 | Charcot-Marie-Tooth disease, type 4B3 | | | | 16 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SCARB2 CL E G H | 950 | 1665 | OMIM:254900 | Epilepsy, progressive myoclonic, 4, with or without renal failure | | | | 77 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:618364 | MYOCLONUS, FAMILIAL, 2; MYOCL2 | | | | 357 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 318 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SEC61A1 CL E G H | 29927 | 18276 | OMIM:617056 | Tubulointerstitial kidney disease, autosomal dominant, 5 | | | | 2 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SETX CL E G H | 23064 | 445 | OMIM:602433 | Amyotrophic lateral sclerosis 4, juvenile | | | | 162 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | | | | 162 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SGCA CL E G H | 6442 | 10805 | OMIM:608099 | Muscular dystrophy, limb-girdle, type 2D | | | | 132 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SGCG CL E G H | 6445 | 10809 | OMIM:253700 | Muscular dystrophy, limb-girdle, type 2C | | | | 83 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | | | | 8 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SIGMAR1 CL E G H | 10280 | 8157 | OMIM:614373 | Amyotrophic lateral sclerosis 16, juvenile | | | | 6 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SIGMAR1 CL E G H | 10280 | 8157 | OMIM:605726 | Spinal muscular atrophy, distal, autosomal recessive, 2 | | | | 6 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | | | | 163 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SLC20A2 CL E G H | 6575 | 10947 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 70 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:609283 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | | | | 68 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SLC33A1 CL E G H | 9197 | 95 | OMIM:614482 | Congenital cataracts, hearing loss, and neurodegeneration | | | | 48 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SLC34A2 CL E G H | 10568 | 11020 | OMIM:265100 | Pulmonary alveolar microlithiasis | | | | 7 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SLC44A4 CL E G H | 80736 | 13941 | OMIM:617606 | Deafness, autosomal dominant 72 | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | | | | 47 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211530 | Brown-Vialetto-Van laere syndrome 1 | | | | 51 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SLC5A7 CL E G H | 60482 | 14025 | OMIM:158580 | Neuronopathy, distal hereditary motor, type VIIA | | | | 9 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SLC6A3 CL E G H | 6531 | 11049 | OMIM:613135 | Parkinsonism-Dystonia, infantile, 1 | | | | 13 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SLC9A1 CL E G H | 6548 | 11071 | OMIM:616291 | Lichtenstein-Knorr syndrome | | | | 2 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SMAD9 CL E G H | 4093 | 6774 | OMIM:615342 | Pulmonary hypertension, primary, 2 | | | | 132 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 22 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:271150 | Spinal muscular atrophy, type IV | | | | 22 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:168601 | Parkinson disease 1, autosomal dominant | | | | 65 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:605543 | Parkinson disease 4 | | | | 65 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | | | | 35 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SNORD118 CL E G H | 727676 | 32952 | OMIM:614561 | Leukoencephalopathy, brain calcifications, and cysts | | | | 6 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SOST CL E G H | 50964 | 13771 | OMIM:122860 | Craniodiaphyseal dysplasia, autosomal dominant | | | | 26 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | | | | 7 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | | | | 208 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:602099 | Amyotrophic lateral sclerosis 5, juvenile | | | | 287 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:616668 | Charcot-Marie-Tooth disease, axonal, type 2X | | | | 287 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | | | | 287 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SPG21 CL E G H | 51324 | 20373 | OMIM:248900 | Mast syndrome | | | | 28 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SPRY2 CL E G H | 10253 | 11270 | OMIM:616818 | Iga nephropathy, susceptibility to, 3 | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:600224 | Spinocerebellar ataxia 5 | | | | 126 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:615386 | Spinocerebellar ataxia, autosomal recessive 14 | | | | 126 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | | | | 62 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | | | | 62 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | STARD7 CL E G H | 56910 | 18063 | OMIM:607876 | Epilepsy, familial adult myoclonic, 2 | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | | | | 31 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | | | | 31 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | STUB1 CL E G H | 10273 | 11427 | OMIM:618093 | SPINOCEREBELLAR ATAXIA 48; SCA48 | | | | 14 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | STUB1 CL E G H | 10273 | 11427 | OMIM:615768 | Spinocerebellar ataxia, autosomal recessive 16 | | | | 14 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:616684 | Charcot-Marie-Tooth disease, type 4K | | | | 73 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:618484 | Arthrogryposis multiplex congenita, Myogenic type | | | | 1129 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:610743 | Spinocerebellar ataxia, autosomal recessive 8 | | | | 1129 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:615530 | Parkinson disease 20, early-onset | | | | 9 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | SYT14 CL E G H | 255928 | 23143 | OMIM:614229 | Spinocerebellar ataxia, autosomal recessive 11 | | | | 4 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TARDBP CL E G H | 23435 | 11571 | OMIM:612069 | Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia | | | | 65 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:616044 | Deafness, autosomal dominant 65 | | | | 271 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:615338 | Epileptic encephalopathy, early infantile, 16 | | | | 271 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:617207 | ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO | | | | 52 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TBK1 CL E G H | 29110 | 11584 | OMIM:616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | | | | 20 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | | | | 7 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | | | | 7 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TEAD1 CL E G H | 7003 | 11714 | OMIM:108985 | Sveinsson chorioretinal atrophy | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TENM4 CL E G H | 26011 | 29945 | OMIM:616736 | Tremor, hereditary essential, 5 | | | | 5 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TFAM CL E G H | 7019 | 11741 | OMIM:617156 | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TFG CL E G H | 10342 | 11758 | OMIM:604484 | Neuropathy, hereditary motor and sensory, Okinawa type | | | | 18 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TGM6 CL E G H | 343641 | 16255 | OMIM:613908 | Spinocerebellar ataxia 35 | | | | 58 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TIA1 CL E G H | 7072 | 11802 | OMIM:604454 | Welander distal myopathy | | | | 5 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TJP2 CL E G H | 9414 | 11828 | OMIM:615878 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4 | | | | 149 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | | | | 103 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TMEM43 CL E G H | 79188 | 28472 | OMIM:614302 | Emery-Dreifuss muscular dystrophy 7, autosomal dominant | | | | 171 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:174810 | Familial expansile osteolysis | | | | 72 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:602080 | Paget disease of bone 2, early-onset | | | | 72 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | | | | 44 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TOR1AIP1 CL E G H | 26092 | 29456 | OMIM:617072 | Muscular dystrophy, limb-girdle, type 2Y | | | | 10 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TPP1 CL E G H | 1200 | 2073 | OMIM:609270 | Spinocerebellar ataxia, autosomal recessive 7 | | | | 203 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TRAK1 CL E G H | 22906 | 29947 | OMIM:618201 | Epileptic encephalopathy, early infantile, 68 | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TRAPPC12 CL E G H | 51112 | 24284 | OMIM:617669 | Encephalopathy, progressive, early-onset, with brain atrophy and spasticity | | | | 2 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TRAPPC2L CL E G H | 51693 | 30887 | OMIM:618331 | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TRAPPC6B CL E G H | 122553 | 23066 | OMIM:617862 | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | | | | 56 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | | | | 108 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TRPC3 CL E G H | 7222 | 12335 | OMIM:616410 | Spinocerebellar ataxia 41 | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:600175 | Spinal muscular atrophy, distal, congenital nonprogressive | | | | 214 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TTN CL E G H | 7273 | 12403 | OMIM:608807 | Muscular dystrophy, limb-girdle, autosomal recessive 10 | | | | 7128 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TTN CL E G H | 7273 | 12403 | OMIM:600334 | Tibial muscular dystrophy, tardive | | | | 7128 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TTR CL E G H | 7276 | 12405 | OMIM:105210 | Amyloidosis, hereditary, transthyretin-related | | | | 107 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TUBB4A CL E G H | 10382 | 20774 | OMIM:612438 | Leukodystrophy, hypomyelinating, 6 | | | | 66 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TUBB6 CL E G H | 84617 | 20776 | OMIM:617732 | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | | | | 113 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | | | | 113 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TXN2 CL E G H | 25828 | 17772 | OMIM:616811 | Combined oxidative phosphorylation deficiency 29 | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 138 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | UBA5 CL E G H | 79876 | 23230 | OMIM:617133 | Spinocerebellar ataxia, autosomal recessive 24 | | | | 13 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | UBQLN2 CL E G H | 29978 | 12509 | OMIM:300857 | Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia | | | | 20 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | | | | 21 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | UMOD CL E G H | 7369 | 12559 | OMIM:162000 | Hyperuricemic nephropathy, familial juvenile, 1 | | | | 66 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | VAC14 CL E G H | 55697 | 25507 | OMIM:617054 | Striatonigral degeneration, childhood-onset | | | | 6 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | VCP CL E G H | 7415 | 12666 | OMIM:616687 | Charcot-Marie-Tooth disease, axonal, type 2Y | | | | 63 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | VLDLR CL E G H | 7436 | 12698 | OMIM:224050 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | | | | 111 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | VMA21 CL E G H | 203547 | 22082 | OMIM:310440 | Myopathy, X-linked, with excessive autophagy | | | | 10 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | | | | 130 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | VPS13C CL E G H | 54832 | 23594 | OMIM:616840 | Parkinson disease 23, autosomal recessive early-onset | | | | 8 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | VPS53 CL E G H | 55275 | 25608 | OMIM:615851 | Pontocerebellar hypoplasia, type 2E | | | | 26 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | | | | 32 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | VWA3B CL E G H | 200403 | 28385 | OMIM:616948 | Spinocerebellar ataxia, autosomal recessive 22 | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | WARS1 CL E G H | 7453 | 12729 | OMIM:617721 | Neuronopathy, distal hereditary motor, type IX | | | | | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:603563 | Spastic paraplegia 8, autosomal dominant | | | | 83 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | WDR45B CL E G H | 56270 | 25072 | OMIM:617977 | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | WNK1 CL E G H | 65125 | 14540 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 199 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:256370 | Nephrotic syndrome, type 4 | | | | 177 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | XPR1 CL E G H | 9213 | 12827 | OMIM:616413 | Basal ganglia calcification, idiopathic, 6 | | | | 4 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | XRCC1 CL E G H | 7515 | 12828 | OMIM:617633 | Spinocerebellar ataxia, autosomal recessive 26 | | | | 4 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | YARS2 CL E G H | 51067 | 24249 | OMIM:613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | | | | 45 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | YEATS2 CL E G H | 55689 | 25489 | OMIM:615127 | Epilepsy, familial adult myoclonic, 4 | | | | 1 | | |
HP:0003679 | HP:0003679 | Pace of progression | 0 | ZFYVE26 CL E G H | 23503 | 20761 | OMIM:270700 | Spastic paraplegia 15, autosomal recessive | | | | 189 | | |
HP:0003679 | HP:0003682 | Variable progression rate | 1 | CL E G H | | | | | | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | . | | | 57 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | AARS2 CL E G H | 57505 | 21022 | OMIM:615889 | Leukoencephalopathy, progressive, with ovarian failure | . | | | 143 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | . | | | 135 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ABCD3 CL E G H | 5825 | 67 | OMIM:616278 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 | | | | 5 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | ABHD12 CL E G H | 26090 | 15868 | OMIM:612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | . | | | 50 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ACER3 CL E G H | 55331 | 16066 | OMIM:617762 | Leukodystrophy, progressive, early childhood-onset | . | | | | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | ACTA1 CL E G H | 58 | 129 | OMIM:616852 | Myopathy, scapulohumeroperoneal | . | | | 96 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | ACTN4 CL E G H | 81 | 166 | OMIM:603278 | Focal segmental glomerulosclerosis 1 | . | | | 27 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ADA2 CL E G H | 51816 | 1839 | OMIM:182410 | Sneddon syndrome | . | | | 22 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | . | | | 4 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | . | | | 26 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | ADSS1 CL E G H | 122622 | 20093 | OMIM:617030 | Myopathy, distal, 5 | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | AFG3L2 CL E G H | 10939 | 315 | OMIM:614487 | Spastic ataxia 5, autosomal recessive | . | | | 86 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | AFG3L2 CL E G H | 10939 | 315 | OMIM:610246 | Spinocerebellar ataxia 28 | . | | | 86 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | . | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | . | | | 60 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300614 | Deafness, X-linked 5 | . | | | 60 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | AIMP1 CL E G H | 9255 | 10648 | OMIM:260600 | Leukodystrophy, hypomyelinating, 3 | . | | | 4 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | AIMP2 CL E G H | 7965 | 20609 | OMIM:618006 | Leukodystrophy, hypomyelinating, 17 | . | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | AKT1 CL E G H | 207 | 391 | OMIM:176920 | Proteus syndrome, somatic | . | | | 54 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:601162 | Spastic paraplegia 9A, autosomal dominant | . | | | 89 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616586 | Spastic paraplegia 9B, autosomal recessive | . | | | 89 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | ALG14 CL E G H | 199857 | 28287 | OMIM:616227 | Myasthenic syndrome, congenital, 15 | . | | | 12 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | ALG2 CL E G H | 85365 | 23159 | OMIM:616228 | Myasthenic syndrome, congenital, 14 | . | | | 46 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | . | | | 114 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | ALS2 CL E G H | 57679 | 443 | OMIM:606353 | Primary lateral sclerosis, juvenile | . | | | 114 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | ALS2 CL E G H | 57679 | 443 | OMIM:607225 | Spastic paralysis, infantile-onset ascending | . | | | 114 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ALS2 CL E G H | 57679 | 443 | OMIM:607225 | Spastic paralysis, infantile-onset ascending | . | | | 114 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ANO5 CL E G H | 203859 | 27337 | OMIM:611307 | Muscular dystrophy, limb-girdle, type 2L | . | | | 304 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ANTXR2 CL E G H | 118429 | 21732 | OMIM:228600 | Hyaline fibromatosis syndrome | . | | | 49 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | AP4B1 CL E G H | 10717 | 572 | OMIM:614066 | Spastic paraplegia 47, autosomal recessive | . | | | 49 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | AP5Z1 CL E G H | 9907 | 22197 | OMIM:613647 | Spastic paraplegia 48, autosomal recessive | . | | | 165 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | APOE CL E G H | 348 | 613 | OMIM:607822 | Alzheimer disease 3 | . | | | 39 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | AR CL E G H | 367 | 644 | OMIM:313200 | Spinal and bulbar muscular atrophy, X-linked 1 | . | | | 125 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | ARHGDIA CL E G H | 396 | 678 | OMIM:615244 | Nephrotic syndrome, type 8 | . | | | 3 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ASAH1 CL E G H | 427 | 735 | OMIM:228000 | Farber lipogranulomatosis | . | | | 78 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ASAH1 CL E G H | 427 | 735 | OMIM:159950 | Spinal muscular atrophy with progressive myoclonic epilepsy | . | | | 78 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ASNS CL E G H | 440 | 753 | OMIM:615574 | Asparagine synthetase deficiency | . | | | 17 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ATAD1 CL E G H | 84896 | 25903 | OMIM:618011 | Hyperekplexia 4 | . | | | | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | ATG5 CL E G H | 9474 | 589 | OMIM:617584 | Spinocerebellar ataxia, autosomal recessive 25 | . | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ATL1 CL E G H | 51062 | 11231 | OMIM:613708 | Neuropathy, hereditary sensory, type ID | . | | | 71 | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | . | | | 16 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ATP11A CL E G H | 23250 | 13552 | OMIM:619810 | DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84 | | | | | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | . | | | 100 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | ATP1A1 CL E G H | 476 | 799 | OMIM:618036 | Charcot-Marie-Tooth disease, axonal, type 2DD | . | | | 4 | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | ATP2B3 CL E G H | 492 | 816 | OMIM:302500 | Spinocerebellar ataxia, X-linked 1 | . | | | 19 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300911 | Parkinsonism with spasticity, X-linked | . | | | 36 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | ATP7A CL E G H | 538 | 869 | OMIM:300489 | Spinal muscular atrophy, distal, X-linked 3 | . | | | 192 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | . | | | 11 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | | | | 14 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | B4GALNT1 CL E G H | 2583 | 4117 | OMIM:609195 | Spastic paraplegia 26, autosomal recessive | . | | | 25 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | B4GALNT1 CL E G H | 2583 | 4117 | OMIM:609195 | Spastic paraplegia 26, autosomal recessive | . | | | 25 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | . | | | 204 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | BRAT1 CL E G H | 221927 | 21701 | OMIM:614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | . | | | 20 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:615924 | Encephalopathy, progressive, with or without lipodystrophy | . | | | 105 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | . | | | 105 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | . | | | 114 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:615043 | Spastic paraplegia 43, autosomal recessive | . | | | 114 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | C9ORF72 CL E G H | 203228 | 28337 | OMIM:105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | . | | | 56 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | CACNA1A CL E G H | 773 | 1388 | OMIM:183086 | Spinocerebellar ataxia 6 | . | | | 449 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | . | | | 32 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | CAD CL E G H | 790 | 1424 | OMIM:616457 | Epileptic encephalopathy, early infantile, 50 | . | | | 10 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | CCDC88C CL E G H | 440193 | 19967 | OMIM:616053 | Spinocerebellar ataxia 40 | . | | | 54 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | CCNO CL E G H | 10309 | 18576 | OMIM:615872 | Ciliary dyskinesia, primary, 29 | . | | | 23 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | CERS1 CL E G H | 10715 | 14253 | OMIM:616230 | Epilepsy, progressive myoclonic, 8 | . | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | CFHR5 CL E G H | 81494 | 24668 | OMIM:614809 | Cfhr5 deficiency | . | | | 47 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | CFL2 CL E G H | 1073 | 1875 | OMIM:610687 | Nemaline myopathy 7 | . | | | 35 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | . | | | 11 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:616209 | Myopathy, isolated mitochondrial, autosomal dominant | . | | | 11 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615048 | Spinal muscular atrophy, Jokela type | . | | | 11 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | CHKB CL E G H | 1120 | 1938 | OMIM:602541 | Muscular dystrophy, congenital, Megaconial type | . | | | 53 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | CHRND CL E G H | 1144 | 1965 | OMIM:616321 | Myasthenic syndrome, congenital, 3A, slow-channel | . | | | 88 | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 139 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | CLCN5 CL E G H | 1184 | 2023 | OMIM:308990 | Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis | . | | | 112 | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | CLDN14 CL E G H | 23562 | 2035 | OMIM:614035 | Deafness, autosomal recessive 29 | . | | | 57 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | CLN8 CL E G H | 2055 | 2079 | OMIM:610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | . | | | 111 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | . | | | 38 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | COA7 CL E G H | 65260 | 25716 | OMIM:618387 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | . | | | 16 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | COCH CL E G H | 1690 | 2180 | OMIM:601369 | Deafness, autosomal dominant 9 | . | | | 46 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | COL4A3 CL E G H | 1285 | 2204 | OMIM:104200 | Alport syndrome, autosomal dominant | . | | | 161 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | COL4A3 CL E G H | 1285 | 2204 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 161 | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | COL4A3 CL E G H | 1285 | 2204 | OMIM:141200 | Hematuria, benign familial | . | | | 161 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | COL4A4 CL E G H | 1286 | 2206 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 174 | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | COL4A4 CL E G H | 1286 | 2206 | OMIM:141200 | Hematuria, benign familial | . | | | 174 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | COL4A5 CL E G H | 1287 | 2207 | OMIM:301050 | Alport syndrome, X-linked | . | | | 678 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | COL6A1 CL E G H | 1291 | 2211 | OMIM:158810 | Bethlem myopathy 1 | . | | | 442 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 442 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | COL6A2 CL E G H | 1292 | 2212 | OMIM:158810 | Bethlem myopathy 1 | . | | | 478 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | COL6A2 CL E G H | 1292 | 2212 | OMIM:255600 | Myosclerosis, autosomal recessive | . | | | 478 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 478 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | COL6A3 CL E G H | 1293 | 2213 | OMIM:158810 | Bethlem myopathy 1 | . | | | 702 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 702 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | COPB2 CL E G H | 9276 | 2232 | OMIM:617800 | Microcephaly 19, primary, autosomal recessive | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | . | | | 54 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | COQ6 CL E G H | 51004 | 20233 | OMIM:614650 | Coenzyme Q10 deficiency, primary, 6 | . | | | 39 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | COQ8B CL E G H | 79934 | 19041 | OMIM:615573 | Nephrotic syndrome, type 9 | . | | | 35 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | COX6A1 CL E G H | 1337 | 2277 | OMIM:616039 | Charcot-Marie-Tooth disease, recessive intermediate D | . | | | 4 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | CPT1C CL E G H | 126129 | 18540 | OMIM:616282 | Spastic paraplegia 73, autosomal dominant | . | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | CRAT CL E G H | 1384 | 2342 | OMIM:617917 | Neurodegeneration with brain iron accumulation 8 | . | | | | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | CRPPA CL E G H | 729920 | 37276 | OMIM:616052 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | . | | | | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | CRYAB CL E G H | 1410 | 2389 | OMIM:608810 | Myopathy, myofibrillar, 2, mfm2 | . | | | 46 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | CRYAB CL E G H | 1410 | 2389 | OMIM:613869 | Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related | . | | | 46 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | . | | | 149 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | CSF1R CL E G H | 1436 | 2433 | OMIM:221820 | Leukoencephalopathy, diffuse hereditary, with spheroids | . | | | 149 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | . | | | 160 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | CTSF CL E G H | 8722 | 2531 | OMIM:615362 | Ceroid lipofuscinosis, neuronal, 13 | . | | | 20 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | . | | | 9 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | . | | | 57 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | DAB1 CL E G H | 1600 | 2661 | OMIM:615945 | Spinocerebellar ataxia 37 | . | | | 4 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | DARS1 CL E G H | 1615 | 2678 | OMIM:615281 | HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL | | | | | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | DARS2 CL E G H | 55157 | 25538 | OMIM:611105 | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation | . | | | 60 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | DCDC2 CL E G H | 51473 | 18141 | OMIM:617394 | Sclerosing cholangitis, neonatal | . | | | 8 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | DCTN1 CL E G H | 1639 | 2711 | OMIM:607641 | Neuronopathy, distal hereditary motor, type VIIB | . | | | 86 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | . | | | 86 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | DDHD1 CL E G H | 80821 | 19714 | OMIM:609340 | Spastic paraplegia 28, autosomal recessive | . | | | 35 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | . | | | 29 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | DEGS1 CL E G H | 8560 | 13709 | OMIM:618404 | Leukodystrophy, hypomyelinating, 18 | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | DGKE CL E G H | 8526 | 2852 | OMIM:615008 | Nephrotic syndrome, type 7 | . | | | 17 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | DIABLO CL E G H | 56616 | 21528 | OMIM:614152 | Deafness, autosomal dominant 64 | . | | | 11 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | DMXL2 CL E G H | 23312 | 2938 | OMIM:617605 | DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71 | | | | 3 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | DNA2 CL E G H | 1763 | 2939 | OMIM:615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6 | . | | | 41 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | DNAJB11 CL E G H | 51726 | 14889 | OMIM:618061 | Polycystic kidney disease 6 with or without polycystic liver disease | . | | | | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | DNAJB2 CL E G H | 3300 | 5228 | OMIM:614881 | Spinal muscular atrophy, distal, autosomal recessive, 5 | . | | | 30 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | DNAJB6 CL E G H | 10049 | 14888 | OMIM:603511 | Muscular dystrophy, limb-girdle, type 1E | . | | | 103 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | DNAJC5 CL E G H | 80331 | 16235 | OMIM:162350 | Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant | . | | | 155 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | DNAJC6 CL E G H | 9829 | 15469 | OMIM:615528 | Parkinson disease 19a, juvenile-onset | . | | | 6 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | DNAJC6 CL E G H | 9829 | 15469 | OMIM:615528 | Parkinson disease 19a, juvenile-onset | . | | | 6 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | . | | | 94 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | DNM1L CL E G H | 10059 | 2973 | OMIM:610708 | Optic atrophy 5 | . | | | 94 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | . | | | 167 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | DNMT1 CL E G H | 1786 | 2976 | OMIM:604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | . | | | 145 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | DNMT1 CL E G H | 1786 | 2976 | OMIM:614116 | Neuropathy, hereditary sensory, type IE | . | | | 145 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:614750 | Myasthenic syndrome, congenital, 13, with tubular aggregates | . | | | 38 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | DRD3 CL E G H | 1814 | 3024 | OMIM:190300 | Tremor, hereditary essential, 1 | . | | | 21 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614228 | Charcot-marie-tooth disease, axonal, type 2O | . | | | 427 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:158600 | Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant | . | | | 427 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | DYSF CL E G H | 8291 | 3097 | OMIM:253601 | Muscular dystrophy, limb-girdle, type 2B | . | | | 600 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | DYSF CL E G H | 8291 | 3097 | OMIM:606768 | Myopathy, distal, with anterior tibial onset | . | | | 600 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | DZIP1L CL E G H | 199221 | 26551 | OMIM:617610 | Polycystic kidney disease 5 | . | | | 4 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | EEF2 CL E G H | 1938 | 3214 | OMIM:609306 | Spinocerebellar ataxia 26 | . | | | 4 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | ELOVL5 CL E G H | 60481 | 21308 | OMIM:615957 | Spinocerebellar ataxia 38 | . | | | 4 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | . | | | 133 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ELP2 CL E G H | 55250 | 18248 | OMIM:617270 | Mental retardation, autosomal recessive 58 | . | | | 6 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | EMC1 CL E G H | 23065 | 28957 | OMIM:616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | . | | | 5 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | EMD CL E G H | 2010 | 3331 | OMIM:310300 | Emery-Dreifuss muscular dystrophy 1, X-linked | . | | | 107 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | EPM2A CL E G H | 7957 | 3413 | OMIM:254780 | Myoclonic epilepsy of lafora | . | | | 83 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ERLIN1 CL E G H | 10613 | 16947 | OMIM:615681 | Spastic paraplegia 62, autosomal recessive | . | | | 2 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ERLIN2 CL E G H | 11160 | 1356 | OMIM:611225 | Spastic paraplegia 18, autosomal recessive | . | | | 18 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | ERLIN2 CL E G H | 11160 | 1356 | OMIM:611225 | Spastic paraplegia 18, autosomal recessive | . | | | 18 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | . | | | 76 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | FAN1 CL E G H | 22909 | 29170 | OMIM:614817 | Interstitial nephritis, karyomegalic | . | | | 15 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | FARS2 CL E G H | 10667 | 21062 | OMIM:617046 | Spastic paraplegia 77, autosomal recessive | . | | | 36 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | FAT2 CL E G H | 2196 | 3596 | OMIM:617769 | Spinocerebellar ataxia 45 | . | | | 2 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | . | | | 1 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | . | | | 36 | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | FGF14 CL E G H | 2259 | 3671 | OMIM:193003 | Nystagmus 4, congenital, autosomal dominant | . | | | 47 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300718 | Myopathy, reducing body, X-linked, childhood-onset | . | | | 68 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300717 | Myopathy, reducing body, X-linked, early-onset, severe | . | | | 68 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300696 | Myopathy, X-linked, with postural muscle atrophy | . | | | 68 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:611228 | Charcot-Marie-Tooth disease, type 4J | . | | | 111 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:611588 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | . | | | 184 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | FLNC CL E G H | 2318 | 3756 | OMIM:609524 | Filaminopathy, autosomal dominant | . | | | 197 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | FLNC CL E G H | 2318 | 3756 | OMIM:614065 | Myopathy, distal, 4 | . | | | 197 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | FN1 CL E G H | 2335 | 3778 | OMIM:601894 | Glomerulopathy with fibronectin deposits 2 | . | | | 9 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | FRG1 CL E G H | 2483 | 3954 | OMIM:158900 | Facioscapulohumeral muscular dystrophy 1 | . | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | FTL CL E G H | 2512 | 3999 | OMIM:606159 | Neurodegeneration with brain iron accumulation 3 | . | | | 33 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | FZD4 CL E G H | 8322 | 4042 | OMIM:133780 | Exudative vitreoretinopathy 1 | . | | | 109 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | FZD6 CL E G H | 8323 | 4044 | OMIM:161050 | Nail disorder, nonsyndromic congenital, 1 | . | | | 3 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | GAN CL E G H | 8139 | 4137 | OMIM:256850 | Giant axonal neuropathy 1, autosomal recessive | . | | | 121 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | GARS1 CL E G H | 2617 | 4162 | OMIM:601472 | Charcot-Marie-Tooth disease, axonal, type 2D | . | | | | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | GARS1 CL E G H | 2617 | 4162 | OMIM:600794 | Neuronopathy, distal hereditary motor, type VA | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | . | | | 30 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | GBE1 CL E G H | 2632 | 4180 | OMIM:263570 | Polyglucosan body neuropathy, adult form | . | | | 86 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | GDAP1 CL E G H | 54332 | 15968 | OMIM:214400 | Charcot-Marie-Tooth disease, type 4A | . | | | 108 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | GDAP2 CL E G H | 54834 | 18010 | OMIM:618369 | Spinocerebellar ataxia, autosomal recessive 27 | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | GEMIN5 CL E G H | 25929 | 20043 | OMIM:619333 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM | | | | | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 128 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | . | | | 107 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:166350 | Osseous heteroplasia, progressive | . | | | 101 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | GNB4 CL E G H | 59345 | 20731 | OMIM:615185 | Charcot-Marie-Tooth disease, dominant intermediate F | . | | | 12 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | . | | | 69 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | GOSR2 CL E G H | 9570 | 4431 | OMIM:614018 | Epilepsy, progressive myoclonic, 6 | . | | | 88 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | GPT2 CL E G H | 84706 | 18062 | OMIM:616281 | Mental retardation, autosomal recessive 49 | . | | | 4 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | GRHL2 CL E G H | 79977 | 2799 | OMIM:608641 | Deafness, autosomal dominant nonsyndromic sensorineural 28 | . | | | 33 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | GRM1 CL E G H | 2911 | 4593 | OMIM:617691 | SPINOCEREBELLAR ATAXIA 44; SCA44 | | | | 8 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | GRM1 CL E G H | 2911 | 4593 | OMIM:614831 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 | | | | 8 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | GRN CL E G H | 2896 | 4601 | OMIM:614706 | Ceroid lipofuscinosis, neuronal, 11 | . | | | 126 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | GYG1 CL E G H | 2992 | 4699 | OMIM:616199 | Polyglucosan body myopathy 2 | . | | | 18 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | HEPACAM CL E G H | 220296 | 26361 | OMIM:613925 | Megalencephalic leukoencephalopathy with subcortical cysts 2A | . | | | 82 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | HINT1 CL E G H | 3094 | 4912 | OMIM:137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | . | | | 12 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | HK1 CL E G H | 3098 | 4922 | OMIM:605285 | Neuropathy, hereditary motor and sensory, Russe type | . | | | 11 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:123400 | Creutzfeldt-Jakob disease | . | | | | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | HNRNPDL CL E G H | 9987 | 5037 | OMIM:609115 | Limb-girdle muscular dystrophy, type 1G | . | | | 5 | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | HOXB1 CL E G H | 3211 | 5111 | OMIM:614744 | Facial paresis, hereditary congenital, 3 | . | | | 2 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | HPCA CL E G H | 3208 | 5144 | OMIM:224500 | Dystonia 2, torsion, autosomal recessive | . | | | 4 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | HPDL CL E G H | 84842 | 28242 | OMIM:619027 | SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83 | | | | | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | HSPB1 CL E G H | 3315 | 5246 | OMIM:608634 | Neuronopathy, distal hereditary motor, type IIB | . | | | 47 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | HSPB3 CL E G H | 8988 | 5248 | OMIM:613376 | Neuronopathy, distal hereditary motor, type IIC | . | | | 13 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | HSPD1 CL E G H | 3329 | 5261 | OMIM:605280 | Spastic paraplegia 13, autosomal dominant | . | | | 46 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | . | | | 16 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | IBA57 CL E G H | 200205 | 27302 | OMIM:616451 | Spastic paraplegia 74, autosomal recessive | . | | | 16 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:616155 | Charcot-Marie-Tooth disease, axonal, type 2S | . | | | 209 | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | ILDR1 CL E G H | 286676 | 28741 | OMIM:609646 | Deafness, neurosensory, autosomal recessive 42 | . | | | 42 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | INF2 CL E G H | 64423 | 23791 | OMIM:614455 | Charcot-Marie-Tooth disease, dominant intermediate E | . | | | 135 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | INPP5K CL E G H | 51763 | 33882 | OMIM:617404 | Muscular dystrophy, congenital, with cataracts and intellectual disability | . | | | 7 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | IREB2 CL E G H | 3658 | 6115 | OMIM:618451 | Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | IRF2BPL CL E G H | 64207 | 14282 | OMIM:618088 | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ISCA1 CL E G H | 81689 | 28660 | OMIM:617613 | Multiple mitochondrial dysfunctions syndrome 5 | . | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ISCA2 CL E G H | 122961 | 19857 | OMIM:616370 | Multiple mitochondrial dysfunctions syndrome 4 | . | | | 7 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | ITPR1 CL E G H | 3708 | 6180 | OMIM:606658 | Spinocerebellar ataxia 15 | . | | | 177 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | KBTBD13 CL E G H | 390594 | 37227 | OMIM:609273 | Nemaline myopathy 6 | . | | | 80 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | KCNC1 CL E G H | 3746 | 6233 | OMIM:616187 | Epilepsy, progressive myoclonic 7 | . | | | 6 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | KCNC3 CL E G H | 3748 | 6235 | OMIM:605259 | Spinocerebellar ataxia 13 | . | | | 17 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | KCND3 CL E G H | 3752 | 6239 | OMIM:607346 | Spinocerebellar ataxia 19 | . | | | 35 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | KCNK3 CL E G H | 3777 | 6278 | OMIM:615344 | Pulmonary hypertension, primary, 4 | . | | | 7 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | KCNQ4 CL E G H | 9132 | 6298 | OMIM:600101 | Deafness, autosomal dominant nonsyndromic sensorineural 2 | . | | | 76 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | KCNT1 CL E G H | 57582 | 18865 | OMIM:614959 | Epileptic encephalopathy, early infantile, 14 | . | | | 321 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | KCTD17 CL E G H | 79734 | 25705 | OMIM:616398 | Dystonia 26, myoclonic | . | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | KCTD7 CL E G H | 154881 | 21957 | OMIM:611726 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | . | | | 106 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | KIF1A CL E G H | 547 | 888 | OMIM:614255 | Mental retardation, autosomal dominant 9 | . | | | 276 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | KIF1A CL E G H | 547 | 888 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 276 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | KIF1A CL E G H | 547 | 888 | OMIM:614213 | Neuropathy, hereditary sensory, type IIC | . | | | 276 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | KIF1A CL E G H | 547 | 888 | OMIM:610357 | Spastic paraplegia 30, autosomal recessive | . | | | 276 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | KIF1B CL E G H | 23095 | 16636 | OMIM:118210 | Charcot-Marie-Tooth disease, axonal, type 2A1 | . | | | 202 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | KIF1C CL E G H | 10749 | 6317 | OMIM:611302 | Spastic ataxia 2, autosomal recessive | . | | | 38 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | KIF5A CL E G H | 3798 | 6323 | OMIM:604187 | Spastic paraplegia 10, autosomal dominant | . | | | 93 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | KLC2 CL E G H | 64837 | 20716 | OMIM:609541 | Spastic paraplegia, optic atrophy, and neuropathy | . | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | KMT2B CL E G H | 9757 | 15840 | OMIM:617284 | Dystonia 28, childhood-onset | . | | | 11 | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | KRT12 CL E G H | 3859 | 6414 | OMIM:122100 | Meesmann corneal dystrophy 1 | | | | 22 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | LAMB1 CL E G H | 3912 | 6486 | OMIM:615191 | Lissencephaly 5 | . | | | 71 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | LIMS2 CL E G H | 55679 | 16084 | OMIM:616827 | Muscular dystrophy, limb-girdle, type 2W | . | | | 10 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | . | | | 645 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:616516 | Emery-Dreifuss muscular dystrophy 3, autosomal recessive | . | | | 645 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:613205 | Muscular dystrophy, congenital, lmna-related | . | | | 645 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | LMNB1 CL E G H | 4001 | 6637 | OMIM:169500 | Leukodystrophy, adult-onset, autosomal dominant | . | | | 44 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | LMNB2 CL E G H | 84823 | 6638 | OMIM:616540 | Epilepsy, progressive myoclonic, 9 | . | | | 11 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | . | | | | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | LRP5 CL E G H | 4041 | 6697 | OMIM:133780 | Exudative vitreoretinopathy 1 | . | | | 125 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | LRRK2 CL E G H | 120892 | 18618 | OMIM:607060 | Parkinson disease 8, autosomal dominant | . | | | 221 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | LRSAM1 CL E G H | 90678 | 25135 | OMIM:614436 | Charcot-Marie-Tooth disease, axonal, type 2P | | | | 102 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | . | | | 10 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | . | | | 10 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MAG CL E G H | 4099 | 6783 | OMIM:616680 | Spastic paraplegia 75, autosomal recessive | . | | | 4 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:155950 | Melorheostosis, isolated | . | | | 134 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MAP3K20 CL E G H | 51776 | 17797 | OMIM:617760 | Myopathy, centronuclear, 6, with fiber-type disproportion | . | | | 2 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MAPKBP1 CL E G H | 23005 | 29536 | OMIM:617271 | Nephronophthisis 20 | . | | | 6 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | . | | | 140 | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | MARCHF6 CL E G H | 10299 | 30550 | OMIM:613608 | Epilepsy, familial adult myoclonic, 3 | . | | | | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MARS1 CL E G H | 4141 | 6898 | OMIM:616280 | Charcot-Marie-Tooth disease, axonal, type 2U | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | . | | | | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MCM2 CL E G H | 4171 | 6944 | OMIM:616968 | Deafness, autosomal dominant 70 | . | | | 1 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MCM3AP CL E G H | 8888 | 6946 | OMIM:618124 | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | . | | | 3 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | . | | | 950 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MECR CL E G H | 51102 | 19691 | OMIM:617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | . | | | 6 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MED17 CL E G H | 9440 | 2375 | OMIM:613668 | Microcephaly, postnatal progressive, with seizures and brain atrophy | . | | | 23 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MFF CL E G H | 56947 | 24858 | OMIM:617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | . | | | 17 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | . | | | 203 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MFSD2A CL E G H | 84879 | 25897 | OMIM:616486 | Microcephaly 15, primary, autosomal recessive | . | | | 5 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | MFSD8 CL E G H | 256471 | 28486 | OMIM:610951 | Ceroid lipofuscinosis, neuronal, 7 | . | | | 120 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | . | | | 11 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MME CL E G H | 4311 | 7154 | OMIM:617017 | Charcot-Marie-Tooth disease, axonal, type 2T | . | | | 18 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MME CL E G H | 4311 | 7154 | OMIM:617018 | SPINOCEREBELLAR ATAXIA 43; SCA43 | | | | 18 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | . | | | 96 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MOCS2 CL E G H | 4338 | 7193 | OMIM:252160 | Molybdenum cofactor deficiency, complementation group B | . | | | 26 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | . | | | 8 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MPV17 CL E G H | 4358 | 7224 | OMIM:618400 | Charcot-Marie-Tooth disease, axonal, type 2EE | . | | | 56 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | . | | | 56 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:118200 | Charcot-Marie-Tooth disease, demyelinating, type 1B | . | | | 134 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | . | | | 134 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MRE11 CL E G H | 4361 | 7230 | OMIM:604391 | Ataxia-Telangiectasia-Like disorder 1 | . | | | 532 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MRPS34 CL E G H | 65993 | 16618 | OMIM:617664 | Combined oxidative phosphorylation deficiency 32 | . | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MTAP CL E G H | 4507 | 7413 | OMIM:112250 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | . | | | 85 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | . | | | 7 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MTPAP CL E G H | 55149 | 25532 | OMIM:613672 | Spastic ataxia 4, autosomal recessive | . | | | 19 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MTRFR CL E G H | 91574 | 26784 | OMIM:613559 | Combined oxidative phosphorylation deficiency 7 | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MYH14 CL E G H | 79784 | 23212 | OMIM:614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | . | | | 227 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:160500 | Myopathy, distal, 1 | . | | | 1269 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:608358 | Myopathy, myosin storage | . | | | 1269 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | . | | | 1269 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:181430 | Scapuloperoneal myopathy, myh7-related | . | | | 1269 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | . | | | 5 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MYO1E CL E G H | 4643 | 7599 | OMIM:614131 | Focal segmental glomerulosclerosis 6 | . | | | 3 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | MYORG CL E G H | 57462 | 19918 | OMIM:618317 | Basal ganglia calcification, idiopathic, 7, autosomal recessive | . | | | | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MYOT CL E G H | 9499 | 12399 | OMIM:182920 | Myopathy, spheroid body | . | | | 75 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MYOT CL E G H | 9499 | 12399 | OMIM:609200 | MYOTILINOPATHY | . | | | 75 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | MYPN CL E G H | 84665 | 23246 | OMIM:617336 | Nemaline myopathy 11, autosomal recessive | . | | | 217 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | NAGLU CL E G H | 4669 | 7632 | OMIM:616491 | Charcot-Marie-Tooth disease, axonal, type 2V | . | | | 72 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | NALCN CL E G H | 259232 | 19082 | OMIM:615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | . | | | 48 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | NAXE CL E G H | 128240 | 18453 | OMIM:617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | . | | | 9 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | NBEAL2 CL E G H | 23218 | 31928 | OMIM:139090 | Gray platelet syndrome | . | | | 127 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | NDUFA12 CL E G H | 55967 | 23987 | OMIM:618244 | Mitochondrial complex I deficiency, nuclear type 23 | . | | | 7 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | NDUFA13 CL E G H | 51079 | 17194 | OMIM:618249 | Mitochondrial complex I deficiency, nuclear type 28 | . | | | 3 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | NDUFAF2 CL E G H | 91942 | 28086 | OMIM:618233 | Mitochondrial complex I deficiency, nuclear type 10 | . | | | 26 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | NDUFB9 CL E G H | 4715 | 7704 | OMIM:618245 | Mitochondrial complex I deficiency, nuclear type 24 | . | | | 16 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | NDUFS1 CL E G H | 4719 | 7707 | OMIM:618226 | Mitochondrial complex I deficiency, nuclear type 5 | . | | | 81 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | NDUFS7 CL E G H | 374291 | 7714 | OMIM:618224 | Mitochondrial complex I deficiency, nuclear type 3 | . | | | 38 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | . | | | 24 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | NEFL CL E G H | 4747 | 7739 | OMIM:617882 | Charcot-Marie-Tooth disease, dominant intermediate G | . | | | 118 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | NHLRC1 CL E G H | 378884 | 21576 | OMIM:254780 | Myoclonic epilepsy of lafora | . | | | 77 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | NIPA1 CL E G H | 123606 | 17043 | OMIM:600363 | Spastic paraplegia 6, autosomal dominant | . | | | 117 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | NKX6-2 CL E G H | 84504 | 19321 | OMIM:617560 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | . | | | 2 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:617772 | Deafness, autosomal dominant 34, with or without inflammation | . | | | 217 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | NOL3 CL E G H | 8996 | 7869 | OMIM:614937 | Myoclonus, familial cortical | . | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | NOP56 CL E G H | 10528 | 15911 | OMIM:614153 | Spinocerebellar ataxia 36 | | | | 9 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | NPHS1 CL E G H | 4868 | 7908 | OMIM:256300 | Nephrotic syndrome, type 1 | . | | | 241 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | NPHS2 CL E G H | 7827 | 13394 | OMIM:600995 | Nephrotic syndrome, type 2 | . | | | 69 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | . | | | 27 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | . | | | 5 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | . | | | 5 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | NUP133 CL E G H | 55746 | 18016 | OMIM:618177 | NEPHROTIC SYNDROME, TYPE 18; NPHS18 | | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | NUP160 CL E G H | 23279 | 18017 | OMIM:618178 | Nephrotic syndrome, type 19 | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | NUP214 CL E G H | 8021 | 8064 | OMIM:618426 | Encephalopathy, acute, infection-induced, susceptibility to, 9 | . | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | NUP85 CL E G H | 79902 | 8734 | OMIM:618176 | Nephrotic syndrome, type 17 | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | NUP93 CL E G H | 9688 | 28958 | OMIM:616892 | Nephrotic syndrome, type 12 | . | | | 5 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | . | | | 214 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | OPA1 CL E G H | 4976 | 8140 | OMIM:125250 | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | . | | | 214 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | OPTN CL E G H | 10133 | 17142 | OMIM:613435 | Amyotrophic lateral sclerosis 12 | | | | 62 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | ORAI1 CL E G H | 84876 | 25896 | OMIM:615883 | Myopathy, tubular aggregate, 2 | . | | | 19 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PABPN1 CL E G H | 8106 | 8565 | OMIM:164300 | Oculopharyngeal muscular dystrophy | . | | | 10 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | PANK2 CL E G H | 80025 | 15894 | OMIM:607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration | . | | | 55 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | PARK7 CL E G H | 11315 | 16369 | OMIM:606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | | | | 23 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PCLO CL E G H | 27445 | 13406 | OMIM:608027 | Pontocerebellar hypoplasia, type 3 | . | | | 6 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PCNA CL E G H | 5111 | 8729 | OMIM:615919 | Ataxia-Telangiectasia-Like disorder 2 | . | | | 1 | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | PDE10A CL E G H | 10846 | 8772 | OMIM:616922 | Striatal degeneration, autosomal dominant 2 | . | | | 5 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | PDE8B CL E G H | 8622 | 8794 | OMIM:609161 | Striatal degeneration, autosomal dominant | . | | | 75 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PDGFB CL E G H | 5155 | 8800 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 9 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PDGFB CL E G H | 5155 | 8800 | OMIM:615483 | Basal ganglia calcification, idiopathic, 5 | . | | | 9 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PDGFRB CL E G H | 5159 | 8804 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 28 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | PDK3 CL E G H | 5165 | 8811 | OMIM:300905 | Charcot-Marie-Tooth disease, X-linked dominant, 6 | . | | | 4 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PDXK CL E G H | 8566 | 8819 | OMIM:618511 | Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy | . | | | | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | PDYN CL E G H | 5173 | 8820 | OMIM:610245 | Spinocerebellar ataxia 23 | . | | | 52 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | PEX10 CL E G H | 5192 | 8851 | OMIM:614870 | Peroxisome biogenesis disorder 6A (Zellweger) | . | | | 75 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | . | | | 75 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | . | | | 59 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | PEX2 CL E G H | 5828 | 9717 | OMIM:614867 | Peroxisome biogenesis disorder 5B | . | | | 82 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | . | | | 77 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PIK3R5 CL E G H | 23533 | 30035 | OMIM:615217 | Ataxia-Oculomotor apraxia 3 | . | | | 11 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | PINK1 CL E G H | 65018 | 14581 | OMIM:605909 | Parkinson disease 6, autosomal recessive early-onset | . | | | 55 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | . | | | 106 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | . | | | 133 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | . | | | 133 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PLCE1 CL E G H | 51196 | 17175 | OMIM:610725 | Nephrotic syndrome, type 3 | . | | | 118 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | PLD3 CL E G H | 23646 | 17158 | OMIM:617770 | Spinocerebellar ataxia 46 | . | | | 2 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | PLEC CL E G H | 5339 | 9069 | OMIM:613723 | Muscular dystrophy, limb-girdle, type 2Q | . | | | 759 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:611067 | Spinal muscular atrophy, distal, autosomal recessive, 4 | . | | | 186 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | PMP2 CL E G H | 5375 | 9117 | OMIM:618279 | Charcot-Marie-Tooth disease, demyelinating, type 1G | . | | | 1 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:118220 | Charcot-Marie-Tooth disease, demyelinating, type 1A | . | | | 79 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | . | | | 79 | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | PMPCA CL E G H | 23203 | 18667 | OMIM:213200 | Spinocerebellar ataxia, autosomal recessive 2 | . | | | 7 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PMPCB CL E G H | 9512 | 9119 | OMIM:617954 | Multiple mitochondrial dysfunctions syndrome 6 | . | | | | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | PNKP CL E G H | 11284 | 9154 | OMIM:616267 | Ataxia-Oculomotor apraxia 4 | . | | | 244 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | . | | | 65 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:215470 | Boucher-Neuhauser syndrome | | | | 103 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PNPLA8 CL E G H | 50640 | 28900 | OMIM:251950 | Mitochondrial myopathy with lactic acidosis | . | | | 3 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | POGLUT1 CL E G H | 56983 | 22954 | OMIM:617232 | Muscular dystrophy, limb-girdle, type 2Z | . | | | 6 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 464 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | POLG CL E G H | 5428 | 9179 | OMIM:203700 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | . | | | 464 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | . | | | 464 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | . | | | 45 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 138 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 67 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613157 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | . | | | 180 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:609308 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | . | | | 213 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PRDM8 CL E G H | 56978 | 13993 | OMIM:616640 | Epilepsy, progressive myoclonic, 10 | . | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PRICKLE1 CL E G H | 144165 | 17019 | OMIM:612437 | Epilepsy, progressive myoclonic 1B | . | | | 133 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | PRKCG CL E G H | 5582 | 9402 | OMIM:605361 | Spinocerebellar ataxia 14 | . | | | 83 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PRKRA CL E G H | 8575 | 9438 | OMIM:612067 | Dystonia 16 | . | | | 37 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | PRNP CL E G H | 5621 | 9449 | OMIM:123400 | Creutzfeldt-Jakob disease | . | | | 69 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | PRNP CL E G H | 5621 | 9449 | OMIM:137440 | Gerstmann-Straussler disease | . | | | 69 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | . | | | 8 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | . | | | 170 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | PSEN1 CL E G H | 5663 | 9508 | OMIM:607822 | Alzheimer disease 3 | . | | | 241 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PTRH2 CL E G H | 51651 | 24265 | OMIM:616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | . | | | 6 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PUM1 CL E G H | 9698 | 14957 | OMIM:617931 | Spinocerebellar ataxia 47 | . | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | PYCR2 CL E G H | 29920 | 30262 | OMIM:616420 | Leukodystrophy, hypomyelinating, 10 | . | | | 11 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | QARS1 CL E G H | 5859 | 9751 | OMIM:615760 | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | . | | | 93 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | . | | | 10 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | REEP2 CL E G H | 51308 | 17975 | OMIM:615625 | Spastic paraplegia 72, autosomal recessive | . | | | 3 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | REPS1 CL E G H | 85021 | 15578 | OMIM:617916 | Neurodegeneration with brain iron accumulation 7 | . | | | | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | RETREG1 CL E G H | 54463 | 25964 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 54 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | RETREG1 CL E G H | 54463 | 25964 | OMIM:613115 | Neuropathy, hereditary sensory and autonomic, type IIB | . | | | 54 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | RNASEH1 CL E G H | 246243 | 18466 | OMIM:616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | . | | | 3 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | RNASEH2C CL E G H | 84153 | 24116 | OMIM:610329 | Aicardi-Goutieres syndrome 3 | . | | | 60 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | RNASET2 CL E G H | 8635 | 21686 | OMIM:612951 | Leukoencephalopathy, cystic, without megalencephaly | . | | | 37 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | RRM2B CL E G H | 50484 | 17296 | OMIM:612075 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | . | | | 125 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | RTN2 CL E G H | 6253 | 10468 | OMIM:604805 | Spastic paraplegia 12, autosomal dominant | . | | | 25 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | RUBCN CL E G H | 9711 | 28991 | OMIM:615705 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15 | | | | 9 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:117000 | Central core disease | . | | | 1200 | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | SAMD12 CL E G H | 401474 | 31750 | OMIM:601068 | Epilepsy, familial adult myoclonic, 1 | . | | | 2 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SBF1 CL E G H | 6305 | 10542 | OMIM:615284 | Charcot-Marie-Tooth disease, type 4B3 | . | | | 16 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | SCARB2 CL E G H | 950 | 1665 | OMIM:254900 | Epilepsy, progressive myoclonic, 4, with or without renal failure | . | | | 77 | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | SCN8A CL E G H | 6334 | 10596 | OMIM:618364 | MYOCLONUS, FAMILIAL, 2; MYOCL2 | | | | 357 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | SCN9A CL E G H | 6335 | 10597 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 318 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SEC61A1 CL E G H | 29927 | 18276 | OMIM:617056 | Tubulointerstitial kidney disease, autosomal dominant, 5 | . | | | 2 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | SETX CL E G H | 23064 | 445 | OMIM:602433 | Amyotrophic lateral sclerosis 4, juvenile | . | | | 162 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | . | | | 162 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SGCA CL E G H | 6442 | 10805 | OMIM:608099 | Muscular dystrophy, limb-girdle, type 2D | . | | | 132 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | SGCG CL E G H | 6445 | 10809 | OMIM:253700 | Muscular dystrophy, limb-girdle, type 2C | . | | | 83 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | . | | | 8 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | SIGMAR1 CL E G H | 10280 | 8157 | OMIM:614373 | Amyotrophic lateral sclerosis 16, juvenile | . | | | 6 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SIGMAR1 CL E G H | 10280 | 8157 | OMIM:605726 | Spinal muscular atrophy, distal, autosomal recessive, 2 | . | | | 6 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | . | | | 163 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SLC20A2 CL E G H | 6575 | 10947 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 70 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | . | | | 68 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SLC25A4 CL E G H | 291 | 10990 | OMIM:609283 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | . | | | 68 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SLC33A1 CL E G H | 9197 | 95 | OMIM:614482 | Congenital cataracts, hearing loss, and neurodegeneration | . | | | 48 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | SLC34A2 CL E G H | 10568 | 11020 | OMIM:265100 | Pulmonary alveolar microlithiasis | . | | | 7 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | . | | | 5 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SLC44A4 CL E G H | 80736 | 13941 | OMIM:617606 | Deafness, autosomal dominant 72 | . | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | . | | | 47 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211530 | Brown-Vialetto-Van laere syndrome 1 | . | | | 51 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | SLC5A7 CL E G H | 60482 | 14025 | OMIM:158580 | Neuronopathy, distal hereditary motor, type VIIA | . | | | 9 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SLC6A3 CL E G H | 6531 | 11049 | OMIM:613135 | Parkinsonism-Dystonia, infantile, 1 | . | | | 13 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SLC9A1 CL E G H | 6548 | 11071 | OMIM:616291 | Lichtenstein-Knorr syndrome | . | | | 2 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SMAD9 CL E G H | 4093 | 6774 | OMIM:615342 | Pulmonary hypertension, primary, 2 | . | | | 132 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | . | | | 22 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | SMN1 CL E G H | 6606 | 11117 | OMIM:271150 | Spinal muscular atrophy, type IV | . | | | 22 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | . | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SNCA CL E G H | 6622 | 11138 | OMIM:168601 | Parkinson disease 1, autosomal dominant | . | | | 65 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | SNCA CL E G H | 6622 | 11138 | OMIM:605543 | Parkinson disease 4 | . | | | 65 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | . | | | 35 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SNORD118 CL E G H | 727676 | 32952 | OMIM:614561 | Leukoencephalopathy, brain calcifications, and cysts | . | | | 6 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SOST CL E G H | 50964 | 13771 | OMIM:122860 | Craniodiaphyseal dysplasia, autosomal dominant | . | | | 26 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | . | | | 7 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | . | | | 208 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | SPG11 CL E G H | 80208 | 11226 | OMIM:602099 | Amyotrophic lateral sclerosis 5, juvenile | . | | | 287 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | SPG11 CL E G H | 80208 | 11226 | OMIM:616668 | Charcot-Marie-Tooth disease, axonal, type 2X | . | | | 287 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | | | 287 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | SPG21 CL E G H | 51324 | 20373 | OMIM:248900 | Mast syndrome | . | | | 28 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SPRY2 CL E G H | 10253 | 11270 | OMIM:616818 | Iga nephropathy, susceptibility to, 3 | . | | | 1 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:600224 | Spinocerebellar ataxia 5 | . | | | 126 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:615386 | Spinocerebellar ataxia, autosomal recessive 14 | . | | | 126 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | . | | | 62 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | . | | | 62 | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | STARD7 CL E G H | 56910 | 18063 | OMIM:607876 | Epilepsy, familial adult myoclonic, 2 | . | | | | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | . | | | 31 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | . | | | 31 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | STUB1 CL E G H | 10273 | 11427 | OMIM:618093 | SPINOCEREBELLAR ATAXIA 48; SCA48 | | | | 14 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | STUB1 CL E G H | 10273 | 11427 | OMIM:615768 | Spinocerebellar ataxia, autosomal recessive 16 | . | | | 14 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | SURF1 CL E G H | 6834 | 11474 | OMIM:616684 | Charcot-Marie-Tooth disease, type 4K | . | | | 73 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SYNE1 CL E G H | 23345 | 17089 | OMIM:618484 | Arthrogryposis multiplex congenita, Myogenic type | . | | | 1129 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | SYNE1 CL E G H | 23345 | 17089 | OMIM:610743 | Spinocerebellar ataxia, autosomal recessive 8 | . | | | 1129 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:615530 | Parkinson disease 20, early-onset | . | | | 9 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | SYT14 CL E G H | 255928 | 23143 | OMIM:614229 | Spinocerebellar ataxia, autosomal recessive 11 | . | | | 4 | | |
HP:0003679 | HP:0003678 | Rapidly progressive | 1 | TARDBP CL E G H | 23435 | 11571 | OMIM:612069 | Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia | . | | | 65 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:616044 | Deafness, autosomal dominant 65 | . | | | 271 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | . | | | 271 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:615338 | Epileptic encephalopathy, early infantile, 16 | . | | | 271 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TBCE CL E G H | 6905 | 11582 | OMIM:617207 | ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO | | | | 52 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TBK1 CL E G H | 29110 | 11584 | OMIM:616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | . | | | 20 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | . | | | 7 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | . | | | 7 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | TEAD1 CL E G H | 7003 | 11714 | OMIM:108985 | Sveinsson chorioretinal atrophy | . | | | 1 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | TENM4 CL E G H | 26011 | 29945 | OMIM:616736 | Tremor, hereditary essential, 5 | . | | | 5 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TFAM CL E G H | 7019 | 11741 | OMIM:617156 | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | . | | | 1 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | TFG CL E G H | 10342 | 11758 | OMIM:604484 | Neuropathy, hereditary motor and sensory, Okinawa type | . | | | 18 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | TGM6 CL E G H | 343641 | 16255 | OMIM:613908 | Spinocerebellar ataxia 35 | . | | | 58 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | TIA1 CL E G H | 7072 | 11802 | OMIM:604454 | Welander distal myopathy | . | | | 5 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TJP2 CL E G H | 9414 | 11828 | OMIM:615878 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4 | | | | 149 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | . | | | 103 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | . | | | 9 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | TMEM43 CL E G H | 79188 | 28472 | OMIM:614302 | Emery-Dreifuss muscular dystrophy 7, autosomal dominant | . | | | 171 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:174810 | Familial expansile osteolysis | . | | | 72 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:602080 | Paget disease of bone 2, early-onset | . | | | 72 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | . | | | 44 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | TOR1AIP1 CL E G H | 26092 | 29456 | OMIM:617072 | Muscular dystrophy, limb-girdle, type 2Y | . | | | 10 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | TPP1 CL E G H | 1200 | 2073 | OMIM:609270 | Spinocerebellar ataxia, autosomal recessive 7 | . | | | 203 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TRAK1 CL E G H | 22906 | 29947 | OMIM:618201 | Epileptic encephalopathy, early infantile, 68 | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TRAPPC12 CL E G H | 51112 | 24284 | OMIM:617669 | Encephalopathy, progressive, early-onset, with brain atrophy and spasticity | . | | | 2 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TRAPPC2L CL E G H | 51693 | 30887 | OMIM:618331 | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TRAPPC6B CL E G H | 122553 | 23066 | OMIM:617862 | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | . | | | 56 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | . | | | 108 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TRPC3 CL E G H | 7222 | 12335 | OMIM:616410 | Spinocerebellar ataxia 41 | . | | | 1 | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:600175 | Spinal muscular atrophy, distal, congenital nonprogressive | . | | | 214 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TTN CL E G H | 7273 | 12403 | OMIM:608807 | Muscular dystrophy, limb-girdle, autosomal recessive 10 | . | | | 7128 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | TTN CL E G H | 7273 | 12403 | OMIM:600334 | Tibial muscular dystrophy, tardive | . | | | 7128 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TTR CL E G H | 7276 | 12405 | OMIM:105210 | Amyloidosis, hereditary, transthyretin-related | . | | | 107 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TUBB4A CL E G H | 10382 | 20774 | OMIM:612438 | Leukodystrophy, hypomyelinating, 6 | . | | | 66 | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | TUBB6 CL E G H | 84617 | 20776 | OMIM:617732 | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | . | | | 113 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | . | | | 113 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TXN2 CL E G H | 25828 | 17772 | OMIM:616811 | Combined oxidative phosphorylation deficiency 29 | . | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 138 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | UBA5 CL E G H | 79876 | 23230 | OMIM:617133 | Spinocerebellar ataxia, autosomal recessive 24 | . | | | 13 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | UBQLN2 CL E G H | 29978 | 12509 | OMIM:300857 | Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia | . | | | 20 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | . | | | 21 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | UMOD CL E G H | 7369 | 12559 | OMIM:162000 | Hyperuricemic nephropathy, familial juvenile, 1 | . | | | 66 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | VAC14 CL E G H | 55697 | 25507 | OMIM:617054 | Striatonigral degeneration, childhood-onset | . | | | 6 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | VCP CL E G H | 7415 | 12666 | OMIM:616687 | Charcot-Marie-Tooth disease, axonal, type 2Y | . | | | 63 | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | VLDLR CL E G H | 7436 | 12698 | OMIM:224050 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | . | | | 111 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | VMA21 CL E G H | 203547 | 22082 | OMIM:310440 | Myopathy, X-linked, with excessive autophagy | . | | | 10 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | . | | | 130 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | VPS13C CL E G H | 54832 | 23594 | OMIM:616840 | Parkinson disease 23, autosomal recessive early-onset | . | | | 8 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | VPS53 CL E G H | 55275 | 25608 | OMIM:615851 | Pontocerebellar hypoplasia, type 2E | | | | 26 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | . | | | 32 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | VWA3B CL E G H | 200403 | 28385 | OMIM:616948 | Spinocerebellar ataxia, autosomal recessive 22 | . | | | 1 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | WARS1 CL E G H | 7453 | 12729 | OMIM:617721 | Neuronopathy, distal hereditary motor, type IX | . | | | | | |
HP:0003679 | HP:0003676 | Progressive | 1 | WASHC5 CL E G H | 9897 | 28984 | OMIM:603563 | Spastic paraplegia 8, autosomal dominant | . | | | 83 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | WDR45B CL E G H | 56270 | 25072 | OMIM:617977 | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | . | | | 1 | | |
HP:0003679 | HP:0003677 | Slowly progressive | 1 | WNK1 CL E G H | 65125 | 14540 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 199 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | WT1 CL E G H | 7490 | 12796 | OMIM:256370 | Nephrotic syndrome, type 4 | . | | | 177 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | XPR1 CL E G H | 9213 | 12827 | OMIM:616413 | Basal ganglia calcification, idiopathic, 6 | . | | | 4 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | XRCC1 CL E G H | 7515 | 12828 | OMIM:617633 | Spinocerebellar ataxia, autosomal recessive 26 | . | | | 4 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | YARS2 CL E G H | 51067 | 24249 | OMIM:613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | . | | | 45 | | |
HP:0003679 | HP:0003680 | Nonprogressive | 1 | YEATS2 CL E G H | 55689 | 25489 | OMIM:615127 | Epilepsy, familial adult myoclonic, 4 | . | | | 1 | | |
HP:0003679 | HP:0003676 | Progressive | 1 | ZFYVE26 CL E G H | 23503 | 20761 | OMIM:270700 | Spastic paraplegia 15, autosomal recessive | . | | | 189 | | |