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:0002063 | HP:0002063 | Rigidity | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619661 | LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2 | | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | AARS1 CL E G H | 16 | 20 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ABCA12 CL E G H | 26154 | 14637 | OMIM:242500 | Ichthyosis, congenital, autosomal recessive 4B | . | | | 130 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | HP:0040283 - Occasional | | | 96 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ACTL6B CL E G H | 51412 | 160 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 116 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ADAR CL E G H | 103 | 225 | OMIM:615010 | Aicardi-Goutieres syndrome 6 | . | | | 116 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040283 - Occasional | | | 116 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | . | | | 4 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:101109 | Spinocerebellar ataxia type 28 | HP:0040284 - Very rare | | | 86 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | AP3B2 CL E G H | 8120 | 567 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 7 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 253 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 253 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | | | | 253 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ARV1 CL E G H | 64801 | 29561 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:3175 | X-linked spasticity-intellectual disability-epilepsy syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ASPA CL E G H | 443 | 756 | ORPHA:314911 | Severe Canavan disease | | | | 48 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATAD1 CL E G H | 84896 | 25903 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATL1 CL E G H | 51062 | 11231 | ORPHA:100984 | Autosomal dominant spastic paraplegia type 3 | HP:0040284 - Very rare | | | 71 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | HP:0040281 - Very frequent | | | 100 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040281 - Very frequent | | | 100 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 239 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 239 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 150 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 150 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040283 - Occasional | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300911 | Parkinsonism with spasticity, X-linked | | | | 36 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | | | | 36 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:363654 | X-linked parkinsonism-spasticity syndrome | | | | 36 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | . | | | 11 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | . | | | 11 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | . | | | 14 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040282 - Frequent | | | 1 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040282 - Frequent | | | 1 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | . | | | 20 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | HP:0040281 - Very frequent | | | 114 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:401901 | Huntington disease-like syndrome due to C9ORF72 expansions | HP:0040282 - Frequent | | | 56 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 449 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 449 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | CACNA1B CL E G H | 774 | 1389 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | CACNA2D1 CL E G H | 781 | 1399 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 59 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:163937 | X-linked intellectual disability, Najm type | HP:0040283 - Occasional | | | 118 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | CDK19 CL E G H | 23097 | 19338 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | CELF2 CL E G H | 10659 | 2550 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | CHKA CL E G H | 1119 | 1937 | OMIM:620023 | | | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | CHMP2B CL E G H | 25978 | 24537 | OMIM:600795 | Frontotemporal dementia and/or amytrophic lateral sclerosis 7 | . | | | 42 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | CLTC CL E G H | 1213 | 2092 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | CNKSR2 CL E G H | 22866 | 19701 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 18 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | . | | | 16 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | . | | | 54 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | HP:0040283 - Occasional | | | 54 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | HP:0040282 - Frequent | | | 54 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | CP CL E G H | 1356 | 2295 | OMIM:604290 | ACERULOPLASMINEMIA | | | | 115 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | HP:0040283 - Occasional | | | 115 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:613869 | Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related | . | | | 46 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | . | | | 149 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:221820 | Leukoencephalopathy, diffuse hereditary, with spheroids | . | | | 149 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | . | | | 159 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | CYFIP2 CL E G H | 26999 | 13760 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | DAB1 CL E G H | 1600 | 2661 | ORPHA:363710 | Spinocerebellar ataxia type 37 | | | | 4 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | DALRD3 CL E G H | 55152 | 25536 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | | | | 86 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | DDHD1 CL E G H | 80821 | 19714 | ORPHA:101008 | Autosomal recessive spastic paraplegia type 28 | HP:0040282 - Frequent | | | 35 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | | | | 29 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | DHCR24 CL E G H | 1718 | 2859 | ORPHA:35107 | Desmosterolosis | HP:0040281 - Very frequent | | | 72 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | DHDDS CL E G H | 79947 | 20603 | OMIM:617836 | Developmental delay and seizures with or without movement abnormalities | . | | | 47 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 47 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040281 - Very frequent | | | 6 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | DNAJC6 CL E G H | 9829 | 15469 | OMIM:615528 | Parkinson disease 19a, juvenile-onset | . | | | 6 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040281 - Very frequent | | | 6 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | DNM1 CL E G H | 1759 | 2972 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 72 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | EEF1A2 CL E G H | 1917 | 3192 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 60 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:618877 | LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN | | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | EIF4G1 CL E G H | 1981 | 3296 | OMIM:614251 | Parkinson disease 18 | . | | | 2 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | . | | | 36 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | FGF12 CL E G H | 2257 | 3668 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | FGF13 CL E G H | 2258 | 3670 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 172 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:93256 | Fragile X-associated tremor/ataxia syndrome | HP:0040282 - Frequent | | | 30 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | FOXRED1 CL E G H | 55572 | 26927 | OMIM:618241 | Mitochondrial complex I deficiency, nuclear type 19 | . | | | 61 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | FRRS1L CL E G H | 23732 | 1362 | OMIM:616981 | Epileptic encephalopathy, early infantile, 37 | . | | | 4 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | FTL CL E G H | 2512 | 3999 | OMIM:606159 | Neurodegeneration with brain iron accumulation 3 | | | | 33 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | FZR1 CL E G H | 51343 | 24824 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GABRA2 CL E G H | 2555 | 4076 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 4 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GABRA5 CL E G H | 2558 | 4079 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GABRB2 CL E G H | 2561 | 4082 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 44 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 139 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 139 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | | | | 160 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | | | | 160 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GAMT CL E G H | 2593 | 4136 | OMIM:612736 | Cerebral creatine deficiency syndrome 2 | | | | 91 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230900 | Gaucher disease, type II | . | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GCDH CL E G H | 2639 | 4189 | OMIM:231670 | Glutaric acidemia I | . | | | 115 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GCDH CL E G H | 2639 | 4189 | ORPHA:25 | Glutaryl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 115 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 86 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:233910 | Hyperphenylalaninemia, BH4-deficient, B | . | | | 86 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GFAP CL E G H | 2670 | 4235 | ORPHA:363722 | Alexander disease type II | | | | 188 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 8 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GIGYF2 CL E G H | 26058 | 11960 | OMIM:607688 | PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11 | | | | 8 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | . | | | 37 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | | | | 120 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GLRA1 CL E G H | 2741 | 4326 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | 63 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GLRB CL E G H | 2743 | 4329 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | 46 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GPHN CL E G H | 10243 | 15465 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | 18 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | GRIN2D CL E G H | 2906 | 4588 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | HCN1 CL E G H | 348980 | 4845 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:123400 | Creutzfeldt-Jakob disease | | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | HTRA1 CL E G H | 5654 | 9476 | OMIM:600142 | Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | . | | | 34 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | HTRA1 CL E G H | 5654 | 9476 | ORPHA:199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 34 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:610297 | PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13 | | | | 39 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | HTRA2 CL E G H | 27429 | 14348 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040281 - Very frequent | | | 39 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 12 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | HTT CL E G H | 3064 | 4851 | OMIM:143100 | Huntington disease | HP:0040283 - Occasional | | | 12 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:248111 | Juvenile Huntington disease | HP:0040282 - Frequent | | | 12 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 28 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 1 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | INPP5K CL E G H | 51763 | 33882 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | ITM2B CL E G H | 9445 | 6174 | OMIM:176500 | Cerebral amyloid angiopathy, itm2b-related, 1 | . | | | 3 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | JAM2 CL E G H | 58494 | 14686 | OMIM:618824 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8 | | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | JPH3 CL E G H | 57338 | 14203 | OMIM:606438 | Huntington disease-like 2 | . | | | 2 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | KCNA2 CL E G H | 3737 | 6220 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | KCNA4 CL E G H | 3739 | 6222 | OMIM:618284 | Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum | | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | KCNB1 CL E G H | 3745 | 6231 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | KCND3 CL E G H | 3752 | 6239 | OMIM:607346 | Spinocerebellar ataxia 19 | | | | 35 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | | | | 35 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619725 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB | | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040283 - Occasional | | | 46 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 196 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | LDHA CL E G H | 3939 | 6535 | OMIM:612933 | Glycogen storage disease XI | . | | | 35 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | LNPK CL E G H | 80856 | 21610 | OMIM:618090 | Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | . | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | LOXL1 CL E G H | 4016 | 6665 | OMIM:177650 | Exfoliation syndrome | . | | | 3 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 221 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | LRRK2 CL E G H | 120892 | 18618 | OMIM:607060 | Parkinson disease 8, autosomal dominant | . | | | 221 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040281 - Very frequent | | | 221 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | | | | 140 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | . | | | 140 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240085 | Progressive supranuclear palsy-parkinsonism syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | | | | 140 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:260540 | Supranuclear palsy, progressive atypical | . | | | 140 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | . | | | 140 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300673 | Encephalopathy, neonatal severe, due to mecp2 mutations | . | | | 950 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | . | | | 950 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | MECR CL E G H | 51102 | 19691 | OMIM:617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | | | | 6 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | | | | 14 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | MME CL E G H | 4311 | 7154 | OMIM:617018 | SPINOCEREBELLAR ATAXIA 43; SCA43 | | | | 18 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | MME CL E G H | 4311 | 7154 | ORPHA:497764 | Spinocerebellar ataxia type 43 | | | | 18 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:33445 | Neuroectodermal melanolysosomal disease | HP:0040283 - Occasional | | | 35 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | NAXE CL E G H | 128240 | 18453 | OMIM:617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | | | | 9 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618239 | Mitochondrial complex I deficiency, nuclear type 17 | . | | | 39 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | NECAP1 CL E G H | 25977 | 24539 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:603472 | NEURONAL INTRANUCLEAR INCLUSION DISEASE | | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:619911 | | | | | 27 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 27 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | . | | | 27 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | NTRK2 CL E G H | 4915 | 8032 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 8 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | NUP62 CL E G H | 23636 | 8066 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040283 - Occasional | | | 7 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | NUS1 CL E G H | 116150 | 21042 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | OGDH CL E G H | 4967 | 8124 | OMIM:203740 | Alpha-Ketoglutarate dehydrogenase deficiency | | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67036 | Autosomal dominant optic atrophy and cataract | | | | 163 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216873 | Atypical pantothenate kinase-associated neurodegeneration | HP:0040282 - Frequent | | | 55 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PARK7 CL E G H | 11315 | 16369 | OMIM:606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | | | | 23 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PARK7 CL E G H | 11315 | 16369 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040281 - Very frequent | | | 23 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PARS2 CL E G H | 25973 | 30563 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 14 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 225 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PDE8B CL E G H | 8622 | 8794 | ORPHA:228169 | Autosomal dominant striatal neurodegeneration | HP:0040281 - Very frequent | | | 75 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PDE8B CL E G H | 8622 | 8794 | OMIM:609161 | Striatal degeneration, autosomal dominant | . | | | 75 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 9 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 28 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | | | | 59 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PINK1 CL E G H | 65018 | 14581 | OMIM:605909 | Parkinson disease 6, autosomal recessive early-onset | . | | | 55 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PINK1 CL E G H | 65018 | 14581 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040281 - Very frequent | | | 55 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 133 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | . | | | 133 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | . | | | 3 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | HP:0040282 - Frequent | | | 3 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PNKD CL E G H | 25953 | 9153 | ORPHA:98810 | Paroxysmal non-kinesigenic dyskinesia | HP:0040283 - Occasional | | | 66 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040281 - Very frequent | | | 6 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040281 - Very frequent | | | 6 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | | | | 464 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 45 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PPP3CA CL E G H | 5530 | 9314 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PRKCG CL E G H | 5582 | 9402 | ORPHA:98763 | Spinocerebellar ataxia type 14 | HP:0040283 - Occasional | | | 83 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PRKN CL E G H | 5071 | 8607 | OMIM:600116 | Parkinson disease, juvenile, type 2 | | | | 138 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PRKN CL E G H | 5071 | 8607 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040281 - Very frequent | | | 138 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:123400 | Creutzfeldt-Jakob disease | | | | 69 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:137440 | Gerstmann-Straussler disease | . | | | 69 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:603218 | Huntington disease-like 1 | . | | | 69 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | | | | 69 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:98810 | Paroxysmal non-kinesigenic dyskinesia | HP:0040283 - Occasional | | | 94 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | | | | 81 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 81 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 81 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | | | | 81 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:619491 | PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24 | | | | 81 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PTCD3 CL E G H | 55037 | 24717 | OMIM:619057 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51 | | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PTS CL E G H | 5805 | 9689 | ORPHA:13 | 6-pyruvoyl-tetrahydropterin synthase deficiency | HP:0040283 - Occasional | | | 19 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | PTS CL E G H | 5805 | 9689 | OMIM:261640 | Hyperphenylalaninemia, BH4-deficient, A | . | | | 19 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | RAB39B CL E G H | 116442 | 16499 | ORPHA:2379 | Early-onset parkinsonism-intellectual disability syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | RAB39B CL E G H | 116442 | 16499 | OMIM:311510 | Waisman syndrome | | | | 34 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | RANBP2 CL E G H | 5903 | 9848 | ORPHA:88619 | Familial acute necrotizing encephalopathy | HP:0040282 - Frequent | | | 57 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | REEP2 CL E G H | 51308 | 17975 | ORPHA:401849 | Autosomal spastic paraplegia type 72 | HP:0040281 - Very frequent | | | 3 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 33 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 34 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 60 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040281 - Very frequent | | | 15 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 125 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:145600 | Malignant hyperthermia, susceptibility to, 1 | | | | 1200 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 55 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 1053 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 126 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 427 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SCN3A CL E G H | 6328 | 10590 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 70 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SCN8A CL E G H | 6334 | 10596 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 357 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 318 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SEMA6B CL E G H | 10501 | 10739 | OMIM:618876 | EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11 | | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SIL1 CL E G H | 64374 | 24624 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040282 - Frequent | | | 67 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SLC13A5 CL E G H | 284111 | 23089 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 73 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | . | | | 110 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SLC1A2 CL E G H | 6506 | 10940 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 63 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SLC20A2 CL E G H | 6575 | 10947 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 70 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 68 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 1 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 42 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SLC30A10 CL E G H | 55532 | 25355 | OMIM:613280 | Hypermanganesemia with dystonia 1 | . | | | 42 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SLC38A3 CL E G H | 10991 | 18044 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SLC6A3 CL E G H | 6531 | 11049 | OMIM:613135 | Parkinsonism-Dystonia, infantile, 1 | . | | | 13 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SLC6A5 CL E G H | 9152 | 11051 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | 81 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:257200 | Niemann-Pick disease, type A | . | | | 164 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 65 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:168601 | Parkinson disease 1, autosomal dominant | . | | | 65 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040281 - Very frequent | | | 65 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | . | | | 35 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SPR CL E G H | 6697 | 11257 | ORPHA:70594 | Dopa-responsive dystonia due to sepiapterin reductase deficiency | HP:0040282 - Frequent | | | 28 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040283 - Occasional | | | 14 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040281 - Very frequent | | | 9 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 9 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:615530 | Parkinson disease 20, early-onset | . | | | 9 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040281 - Very frequent | | | 9 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | SZT2 CL E G H | 23334 | 29040 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 123 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | | | | 21 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | . | | | 7 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | . | | | 7 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | TBP CL E G H | 6908 | 11588 | ORPHA:98759 | Spinocerebellar ataxia type 17 | HP:0040282 - Frequent | | | 7 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 80 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | TH CL E G H | 7054 | 11782 | OMIM:605407 | Segawa syndrome, autosomal recessive | . | | | 80 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | | | | 103 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | TMEM240 CL E G H | 339453 | 25186 | ORPHA:98773 | Spinocerebellar ataxia type 21 | HP:0040282 - Frequent | | | 9 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | TRAK1 CL E G H | 22906 | 29947 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 56 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 2 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | TUBB4A CL E G H | 10382 | 20774 | OMIM:612438 | Leukodystrophy, hypomyelinating, 6 | . | | | 66 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 113 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | UBA5 CL E G H | 79876 | 23230 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | UBTF CL E G H | 7343 | 12511 | OMIM:617672 | Neurodegeneration, childhood-onset, with brain atrophy | . | | | 1 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:613643 | PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5 | | | | 21 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | UCHL1 CL E G H | 7345 | 12513 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040281 - Very frequent | | | 21 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | UQCRC1 CL E G H | 7384 | 12585 | OMIM:619279 | PARKINSONISM WITH POLYNEUROPATHY; PKNPY | | | | | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | VPS13C CL E G H | 54832 | 23594 | OMIM:616840 | Parkinson disease 23, autosomal recessive early-onset | | | | 8 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | VPS13C CL E G H | 54832 | 23594 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040281 - Very frequent | | | 8 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 37 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | VPS35 CL E G H | 55737 | 13487 | OMIM:614203 | Parkinson disease 17 | . | | | 37 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | WDR45 CL E G H | 11152 | 28912 | ORPHA:329284 | Beta-propeller protein-associated neurodegeneration | HP:0040282 - Frequent | | | 51 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | WDR45 CL E G H | 11152 | 28912 | OMIM:300894 | Neurodegeneration with brain iron accumulation 5 | . | | | 51 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | WWOX CL E G H | 51741 | 12799 | OMIM:616211 | Epileptic encephalopathy, early infantile, 28 | . | | | 149 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 149 | | |
HP:0002063 | HP:0002063 | Rigidity | 0 | YWHAG CL E G H | 7532 | 12852 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | CL E G H | | | | | | | | | | |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 116 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040283 - Occasional | | | 116 | | |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040284 - Very rare | | | 253 | | |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040284 - Very rare | | | 253 | | |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040284 - Very rare | | | 253 | | |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | ASPA CL E G H | 443 | 756 | ORPHA:314911 | Severe Canavan disease | HP:0040284 - Very rare | | | 48 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040283 - Occasional | | | | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300911 | Parkinsonism with spasticity, X-linked | . | | | 36 | | |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | HP:0040282 - Frequent | | | 36 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:363654 | X-linked parkinsonism-spasticity syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | CP CL E G H | 1356 | 2295 | OMIM:604290 | ACERULOPLASMINEMIA | . | | | 115 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | DAB1 CL E G H | 1600 | 2661 | ORPHA:363710 | Spinocerebellar ataxia type 37 | HP:0040281 - Very frequent | | | 4 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | FRRS1L CL E G H | 23732 | 1362 | OMIM:616981 | Epileptic encephalopathy, early infantile, 37 | | | | 4 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 139 | | |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | . | | | 160 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | HP:0040283 - Occasional | | | 120 | | |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:123400 | Creutzfeldt-Jakob disease | . | | | | | |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | KCNA4 CL E G H | 3739 | 6222 | OMIM:618284 | Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum | . | | | | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | KCND3 CL E G H | 3752 | 6239 | OMIM:607346 | Spinocerebellar ataxia 19 | HP:0040283 - Occasional | | | 35 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | HP:0040283 - Occasional | | | 35 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619725 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB | | | | | | |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | | | | 140 | | |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | | | | 140 | | |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | | | | 140 | | |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | | | | 14 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | MME CL E G H | 4311 | 7154 | ORPHA:497764 | Spinocerebellar ataxia type 43 | HP:0040282 - Frequent | | | 18 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | NUP62 CL E G H | 23636 | 8066 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040283 - Occasional | | | 7 | | |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67036 | Autosomal dominant optic atrophy and cataract | HP:0040283 - Occasional | | | 163 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 225 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 45 | | |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PRNP CL E G H | 5621 | 9449 | OMIM:123400 | Creutzfeldt-Jakob disease | . | | | 69 | | |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | | | | 69 | | |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 81 | | |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040284 - Very rare | | | 81 | | |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040284 - Very rare | | | 81 | | |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040284 - Very rare | | | 81 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | RAB39B CL E G H | 116442 | 16499 | ORPHA:2379 | Early-onset parkinsonism-intellectual disability syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | RAB39B CL E G H | 116442 | 16499 | OMIM:311510 | Waisman syndrome | . | | | 34 | | |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 125 | | |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 1053 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 126 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 427 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 318 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | | | | 110 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 68 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SLC6A3 CL E G H | 6531 | 11049 | OMIM:613135 | Parkinsonism-Dystonia, infantile, 1 | | | | 13 | | |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | | | | 21 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 103 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | . | | | 9 | | |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 113 | | |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | MAPT CL E G H | 4137 | 6893 | ORPHA:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | HP:0040282 - Frequent | | | 14 | | |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | HP:0040282 - Frequent | | | 69 | | |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | HP:0040282 - Frequent | | | 21 | | |