Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0002063 | HP:0002063 | Rigidity | 0 | ABCA12 CL E G H | 26154 | 242500 | Autosomal recessive congenital ichthyosis 4B | 242500 | C0239849 | OMIM | 1 | | 381 | 14637 | 607800 |
HP:0002063 | HP:0002063 | Rigidity | 0 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 818 | 225 | 146920 |
HP:0002063 | HP:0002063 | Rigidity | 0 | ARX CL E G H | 170302 | 3175 | | | | ORPHA | 1 | | 679 | 18060 | 300382 |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 116 | 25903 | 614452 |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 738 | 30213 | 610513 |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATXN8 CL E G H | 724066 | 98760 | | | | ORPHA | 1 | | 2 | 32925 | 613289 |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 1 | | 79 | 10561 | 603680 |
HP:0002063 | HP:0002063 | Rigidity | 0 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0002063 | HP:0002063 | Rigidity | 0 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0002063 | HP:0002063 | Rigidity | 0 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 1 | | 173 | 28337 | 614260 |
HP:0002063 | HP:0002063 | Rigidity | 0 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0002063 | HP:0002063 | Rigidity | 0 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 175 | 29932 | 609855 |
HP:0002063 | HP:0002063 | Rigidity | 0 | COQ2 CL E G H | 27235 | 98933 | | | | ORPHA | 1 | | 205 | 25223 | 609825 |
HP:0002063 | HP:0002063 | Rigidity | 0 | CRYAB CL E G H | 1410 | 613869 | Fatal infantile hypertonic myofibrillar myopathy | 613869 | C3151236 | OMIM | 1 | | 230 | 2389 | 123590 |
HP:0002063 | HP:0002063 | Rigidity | 0 | CSF1R CL E G H | 1436 | 221820 | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | C3711381 | OMIM | 1 | | 518 | 2433 | 164770 |
HP:0002063 | HP:0002063 | Rigidity | 0 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 527 | 2529 | 116840 |
HP:0002063 | HP:0002063 | Rigidity | 0 | DCTN1 CL E G H | 1639 | 168605 | Perry syndrome | 168605 | C1868594 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0002063 | HP:0002063 | Rigidity | 0 | DDHD1 CL E G H | 80821 | 101008 | | | | ORPHA | 1 | | 302 | 19714 | 614603 |
HP:0002063 | HP:0002063 | Rigidity | 0 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 1 | | 216 | 2859 | 606418 |
HP:0002063 | HP:0002063 | Rigidity | 0 | DHDDS CL E G H | 79947 | 617836 | DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | 617836 | CN769090 | OMIM | 1 | | 318 | 20603 | 608172 |
HP:0002063 | HP:0002063 | Rigidity | 0 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 235 | 15469 | 608375 |
HP:0002063 | HP:0002063 | Rigidity | 0 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 1 | | 235 | 15469 | 608375 |
HP:0002063 | HP:0002063 | Rigidity | 0 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 191 | 13586 | 605648 |
HP:0002063 | HP:0002063 | Rigidity | 0 | FBXO7 CL E G H | 25793 | 260300 | Parkinson disease 15 | 260300 | C1850100 | OMIM | 1 | | 191 | 13586 | 605648 |
HP:0002063 | HP:0002063 | Rigidity | 0 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 688 | 3688 | 136350 |
HP:0002063 | HP:0002063 | Rigidity | 0 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0002063 | HP:0002063 | Rigidity | 0 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 255 | 26927 | 613622 |
HP:0002063 | HP:0002063 | Rigidity | 0 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 341 | 1362 | 604574 |
HP:0002063 | HP:0002063 | Rigidity | 0 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 151 | 3999 | 134790 |
HP:0002063 | HP:0002063 | Rigidity | 0 | GBA CL E G H | 2629 | 230900 | Acute neuronopathic Gaucher's disease | 230900 | C0268250 | OMIM | 1 | | | 4177 | 606463 |
HP:0002063 | HP:0002063 | Rigidity | 0 | GCDH CL E G H | 2639 | 231670 | Glutaric aciduria, type 1 | 231670 | C0268595 | OMIM | 1 | | 600 | 4189 | 608801 |
HP:0002063 | HP:0002063 | Rigidity | 0 | GCH1 CL E G H | 2643 | 98808 | | | | ORPHA | 1 | | 364 | 4193 | 600225 |
HP:0002063 | HP:0002063 | Rigidity | 0 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 364 | 4193 | 600225 |
HP:0002063 | HP:0002063 | Rigidity | 0 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0002063 | HP:0002063 | Rigidity | 0 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 381 | 4326 | 138491 |
HP:0002063 | HP:0002063 | Rigidity | 0 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 287 | 4329 | 138492 |
HP:0002063 | HP:0002063 | Rigidity | 0 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 982 | 15465 | 603930 |
HP:0002063 | HP:0002063 | Rigidity | 0 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 225 | 9476 | 602194 |
HP:0002063 | HP:0002063 | Rigidity | 0 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 735 | 4851 | 613004 |
HP:0002063 | HP:0002063 | Rigidity | 0 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 157 | 33882 | 607875 |
HP:0002063 | HP:0002063 | Rigidity | 0 | ITM2B CL E G H | 9445 | 176500 | Dementia familial British | 176500 | C1867773 | OMIM | 1 | | 114 | 6174 | 603904 |
HP:0002063 | HP:0002063 | Rigidity | 0 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 125 | 14203 | 605268 |
HP:0002063 | HP:0002063 | Rigidity | 0 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0002063 | HP:0002063 | Rigidity | 0 | LDHA CL E G H | 3939 | 612933 | Glycogen storage disease XI | 612933 | C2752022 | OMIM | 1 | | 145 | 6535 | 150000 |
HP:0002063 | HP:0002063 | Rigidity | 0 | LNPK CL E G H | 80856 | 618090 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM | 618090 | CN252703 | OMIM | 1 | | 44 | 21610 | 610236 |
HP:0002063 | HP:0002063 | Rigidity | 0 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0002063 | HP:0002063 | Rigidity | 0 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0002063 | HP:0002063 | Rigidity | 0 | MECP2 CL E G H | 4204 | 300260 | MECP2 duplication syndrome | 300260 | C1846058 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0002063 | HP:0002063 | Rigidity | 0 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0002063 | HP:0002063 | Rigidity | 0 | NDUFAF6 CL E G H | 137682 | 618239 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | 618239 | | OMIM | 1 | | 198 | 28625 | 612392 |
HP:0002063 | HP:0002063 | Rigidity | 0 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 112 | 7981 | 601828 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PANK2 CL E G H | 80025 | 216873 | | | | ORPHA | 1 | | 371 | 15894 | 606157 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 371 | 15894 | 606157 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PARK7 CL E G H | 11315 | 606324 | Parkinson disease 7 | 606324 | C1853445 | OMIM | 1 | | 160 | 16369 | 602533 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PDE8B CL E G H | 8622 | 228169 | Autosomal dominant striatal neurodegeneration | | C1836694 | ORPHA | 1 | | 179 | 8794 | 603390 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PDE8B CL E G H | 8622 | 609161 | Striatal degeneration, autosomal dominant 1 | 609161 | C4310808 | OMIM | 1 | | 179 | 8794 | 603390 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 345 | 8804 | 173410 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PINK1 CL E G H | 65018 | 605909 | Parkinson disease 6, autosomal recessive early-onset | 605909 | C1853833 | OMIM | 1 | | 301 | 14581 | 608309 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 1 | | 598 | 9039 | 603604 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PLA2G6 CL E G H | 8398 | 612953 | Parkinson disease 14 | 612953 | C2751842 | OMIM | 1 | | 598 | 9039 | 603604 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 338 | 9043 | 603873 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PLAA CL E G H | 9373 | 617527 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES | 617527 | C4479631 | OMIM | 1 | | 338 | 9043 | 603873 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 134 | 9171 | 602632 |
HP:0002063 | HP:0002063 | Rigidity | 0 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0002063 | HP:0002063 | Rigidity | 0 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PRKN CL E G H | 5071 | 600116 | Parkinson disease 2 | 600116 | C1868675 | OMIM | 1 | | 655 | 8607 | 602544 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PRNP CL E G H | 5621 | 603218 | Huntington disease-like 1 | 603218 | C1864112 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 214 | 9689 | 612719 |
HP:0002063 | HP:0002063 | Rigidity | 0 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 1085 | 9848 | 601181 |
HP:0002063 | HP:0002063 | Rigidity | 0 | REEP2 CL E G H | 51308 | 401849 | | | | ORPHA | 1 | | 76 | 17975 | 609347 |
HP:0002063 | HP:0002063 | Rigidity | 0 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 214 | 34016 | 601428 |
HP:0002063 | HP:0002063 | Rigidity | 0 | RYR1 CL E G H | 6261 | 145600 | Malignant hyperthermia, susceptibility to, 1 | 145600 | CN031421 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SIL1 CL E G H | 64374 | 559 | | | | ORPHA | 1 | | 229 | 24624 | 608005 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 482 | 16266 | 606152 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 281 | 10947 | 158378 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 188 | 25355 | 611146 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 188 | 25355 | 611146 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 479 | 11049 | 126455 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 532 | 11051 | 604159 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SMPD1 CL E G H | 6609 | 257200 | Niemann-Pick disease, type A | 257200 | C0268242 | OMIM | 1 | | 747 | 11120 | 607608 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 177 | 11138 | 163890 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 118 | 11139 | 603779 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SPR CL E G H | 6697 | 70594 | | | | ORPHA | 1 | | 160 | 11257 | 182125 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 1046 | 11503 | 604297 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 1 | | 1046 | 11503 | 604297 |
HP:0002063 | HP:0002063 | Rigidity | 0 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 116 | 11588 | 600075 |
HP:0002063 | HP:0002063 | Rigidity | 0 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 116 | 11588 | 600075 |
HP:0002063 | HP:0002063 | Rigidity | 0 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 794 | 11782 | 191290 |
HP:0002063 | HP:0002063 | Rigidity | 0 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 1 | | 794 | 11782 | 191290 |
HP:0002063 | HP:0002063 | Rigidity | 0 | TMEM240 CL E G H | 339453 | 98773 | | | | ORPHA | 1 | | 192 | 25186 | 616101 |
HP:0002063 | HP:0002063 | Rigidity | 0 | TNNT1 CL E G H | 7138 | 605355 | Nemaline myopathy 5 | 605355 | C1854380 | OMIM | 1 | | 298 | 11948 | 191041 |
HP:0002063 | HP:0002063 | Rigidity | 0 | TUBB4A CL E G H | 10382 | 612438 | Leukodystrophy, hypomyelinating, 6 | 612438 | C2676244 | OMIM | 1 | | 219 | 20774 | 602662 |
HP:0002063 | HP:0002063 | Rigidity | 0 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 55 | 12511 | 600673 |
HP:0002063 | HP:0002063 | Rigidity | 0 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 504 | 28912 | 300526 |
HP:0002063 | HP:0002063 | Rigidity | 0 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 504 | 28912 | 300526 |
HP:0002063 | HP:0002063 | Rigidity | 0 | WWOX CL E G H | 51741 | 616211 | Epileptic encephalopathy, early infantile, 28 | 616211 | C4015519 | OMIM | 1 | | 967 | 12799 | 605131 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | ABCA12 CL E G H | 26154 | 242500 | Autosomal recessive congenital ichthyosis 4B | 242500 | C0239849 | OMIM | 1 | | 381 | 14637 | 607800 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | ABCA12 CL E G H | 26154 | 242500 | Autosomal recessive congenital ichthyosis 4B | 242500 | C0239849 | OMIM | 1 | | 381 | 14637 | 607800 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | ABCA12 CL E G H | 26154 | 242500 | Autosomal recessive congenital ichthyosis 4B | 242500 | C0239849 | OMIM | 1 | | 381 | 14637 | 607800 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | ABCA12 CL E G H | 26154 | 242500 | Autosomal recessive congenital ichthyosis 4B | 242500 | C0239849 | OMIM | 1 | | 381 | 14637 | 607800 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 818 | 225 | 146920 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 818 | 225 | 146920 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 818 | 225 | 146920 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 818 | 225 | 146920 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | ARX CL E G H | 170302 | 3175 | | | | ORPHA | 1 | | 679 | 18060 | 300382 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | ARX CL E G H | 170302 | 3175 | | | | ORPHA | 1 | | 679 | 18060 | 300382 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | ARX CL E G H | 170302 | 3175 | | | | ORPHA | 1 | | 679 | 18060 | 300382 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | ARX CL E G H | 170302 | 3175 | | | | ORPHA | 1 | | 679 | 18060 | 300382 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 116 | 25903 | 614452 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 116 | 25903 | 614452 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 116 | 25903 | 614452 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 116 | 25903 | 614452 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 738 | 30213 | 610513 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 738 | 30213 | 610513 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 738 | 30213 | 610513 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 738 | 30213 | 610513 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | ATXN8 CL E G H | 724066 | 98760 | | | | ORPHA | 1 | | 2 | 32925 | 613289 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | ATXN8 CL E G H | 724066 | 98760 | | | | ORPHA | 1 | | 2 | 32925 | 613289 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | ATXN8 CL E G H | 724066 | 98760 | | | | ORPHA | 1 | | 2 | 32925 | 613289 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | ATXN8 CL E G H | 724066 | 98760 | | | | ORPHA | 1 | | 2 | 32925 | 613289 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 1 | | 79 | 10561 | 603680 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 1 | | 79 | 10561 | 603680 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 1 | | 79 | 10561 | 603680 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 1 | | 79 | 10561 | 603680 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 1 | | 173 | 28337 | 614260 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 1 | | 173 | 28337 | 614260 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 1 | | 173 | 28337 | 614260 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 1 | | 173 | 28337 | 614260 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 175 | 29932 | 609855 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 175 | 29932 | 609855 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 175 | 29932 | 609855 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 175 | 29932 | 609855 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | COQ2 CL E G H | 27235 | 98933 | | | | ORPHA | 1 | | 205 | 25223 | 609825 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | COQ2 CL E G H | 27235 | 98933 | | | | ORPHA | 1 | | 205 | 25223 | 609825 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | COQ2 CL E G H | 27235 | 98933 | | | | ORPHA | 1 | | 205 | 25223 | 609825 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | COQ2 CL E G H | 27235 | 98933 | | | | ORPHA | 1 | | 205 | 25223 | 609825 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | CRYAB CL E G H | 1410 | 613869 | Fatal infantile hypertonic myofibrillar myopathy | 613869 | C3151236 | OMIM | 1 | | 230 | 2389 | 123590 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | CRYAB CL E G H | 1410 | 613869 | Fatal infantile hypertonic myofibrillar myopathy | 613869 | C3151236 | OMIM | 1 | | 230 | 2389 | 123590 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | CRYAB CL E G H | 1410 | 613869 | Fatal infantile hypertonic myofibrillar myopathy | 613869 | C3151236 | OMIM | 1 | | 230 | 2389 | 123590 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | CRYAB CL E G H | 1410 | 613869 | Fatal infantile hypertonic myofibrillar myopathy | 613869 | C3151236 | OMIM | 1 | | 230 | 2389 | 123590 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | CSF1R CL E G H | 1436 | 221820 | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | C3711381 | OMIM | 1 | | 518 | 2433 | 164770 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | CSF1R CL E G H | 1436 | 221820 | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | C3711381 | OMIM | 1 | | 518 | 2433 | 164770 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | CSF1R CL E G H | 1436 | 221820 | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | C3711381 | OMIM | 1 | | 518 | 2433 | 164770 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | CSF1R CL E G H | 1436 | 221820 | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | C3711381 | OMIM | 1 | | 518 | 2433 | 164770 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 527 | 2529 | 116840 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 527 | 2529 | 116840 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 527 | 2529 | 116840 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 527 | 2529 | 116840 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | DCTN1 CL E G H | 1639 | 168605 | Perry syndrome | 168605 | C1868594 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | DCTN1 CL E G H | 1639 | 168605 | Perry syndrome | 168605 | C1868594 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | DCTN1 CL E G H | 1639 | 168605 | Perry syndrome | 168605 | C1868594 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | DCTN1 CL E G H | 1639 | 168605 | Perry syndrome | 168605 | C1868594 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | DDHD1 CL E G H | 80821 | 101008 | | | | ORPHA | 1 | | 302 | 19714 | 614603 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | DDHD1 CL E G H | 80821 | 101008 | | | | ORPHA | 1 | | 302 | 19714 | 614603 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | DDHD1 CL E G H | 80821 | 101008 | | | | ORPHA | 1 | | 302 | 19714 | 614603 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | DDHD1 CL E G H | 80821 | 101008 | | | | ORPHA | 1 | | 302 | 19714 | 614603 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 1 | | 216 | 2859 | 606418 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 1 | | 216 | 2859 | 606418 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 1 | | 216 | 2859 | 606418 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 1 | | 216 | 2859 | 606418 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | DHDDS CL E G H | 79947 | 617836 | DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | 617836 | CN769090 | OMIM | 1 | | 318 | 20603 | 608172 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | DHDDS CL E G H | 79947 | 617836 | DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | 617836 | CN769090 | OMIM | 1 | | 318 | 20603 | 608172 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | DHDDS CL E G H | 79947 | 617836 | DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | 617836 | CN769090 | OMIM | 1 | | 318 | 20603 | 608172 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | DHDDS CL E G H | 79947 | 617836 | DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | 617836 | CN769090 | OMIM | 1 | | 318 | 20603 | 608172 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 235 | 15469 | 608375 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 235 | 15469 | 608375 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 235 | 15469 | 608375 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 235 | 15469 | 608375 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 1 | | 235 | 15469 | 608375 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 1 | | 235 | 15469 | 608375 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 1 | | 235 | 15469 | 608375 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 1 | | 235 | 15469 | 608375 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 191 | 13586 | 605648 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 191 | 13586 | 605648 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 191 | 13586 | 605648 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 191 | 13586 | 605648 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | FBXO7 CL E G H | 25793 | 260300 | Parkinson disease 15 | 260300 | C1850100 | OMIM | 1 | | 191 | 13586 | 605648 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | FBXO7 CL E G H | 25793 | 260300 | Parkinson disease 15 | 260300 | C1850100 | OMIM | 1 | | 191 | 13586 | 605648 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | FBXO7 CL E G H | 25793 | 260300 | Parkinson disease 15 | 260300 | C1850100 | OMIM | 1 | | 191 | 13586 | 605648 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | FBXO7 CL E G H | 25793 | 260300 | Parkinson disease 15 | 260300 | C1850100 | OMIM | 1 | | 191 | 13586 | 605648 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 688 | 3688 | 136350 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 688 | 3688 | 136350 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 688 | 3688 | 136350 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 688 | 3688 | 136350 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 255 | 26927 | 613622 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 255 | 26927 | 613622 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 255 | 26927 | 613622 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 255 | 26927 | 613622 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 341 | 1362 | 604574 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 341 | 1362 | 604574 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 341 | 1362 | 604574 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 341 | 1362 | 604574 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 151 | 3999 | 134790 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 151 | 3999 | 134790 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 151 | 3999 | 134790 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 151 | 3999 | 134790 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | GBA CL E G H | 2629 | 230900 | Acute neuronopathic Gaucher's disease | 230900 | C0268250 | OMIM | 1 | | | 4177 | 606463 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | GBA CL E G H | 2629 | 230900 | Acute neuronopathic Gaucher's disease | 230900 | C0268250 | OMIM | 1 | | | 4177 | 606463 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | GBA CL E G H | 2629 | 230900 | Acute neuronopathic Gaucher's disease | 230900 | C0268250 | OMIM | 1 | | | 4177 | 606463 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | GBA CL E G H | 2629 | 230900 | Acute neuronopathic Gaucher's disease | 230900 | C0268250 | OMIM | 1 | | | 4177 | 606463 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | GCDH CL E G H | 2639 | 231670 | Glutaric aciduria, type 1 | 231670 | C0268595 | OMIM | 1 | | 600 | 4189 | 608801 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | GCDH CL E G H | 2639 | 231670 | Glutaric aciduria, type 1 | 231670 | C0268595 | OMIM | 1 | | 600 | 4189 | 608801 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | GCDH CL E G H | 2639 | 231670 | Glutaric aciduria, type 1 | 231670 | C0268595 | OMIM | 1 | | 600 | 4189 | 608801 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | GCDH CL E G H | 2639 | 231670 | Glutaric aciduria, type 1 | 231670 | C0268595 | OMIM | 1 | | 600 | 4189 | 608801 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | GCH1 CL E G H | 2643 | 98808 | | | | ORPHA | 1 | | 364 | 4193 | 600225 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | GCH1 CL E G H | 2643 | 98808 | | | | ORPHA | 1 | | 364 | 4193 | 600225 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | GCH1 CL E G H | 2643 | 98808 | | | | ORPHA | 1 | | 364 | 4193 | 600225 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | GCH1 CL E G H | 2643 | 98808 | | | | ORPHA | 1 | | 364 | 4193 | 600225 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 364 | 4193 | 600225 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 364 | 4193 | 600225 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 364 | 4193 | 600225 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 364 | 4193 | 600225 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 381 | 4326 | 138491 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 381 | 4326 | 138491 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 381 | 4326 | 138491 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 381 | 4326 | 138491 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 287 | 4329 | 138492 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 287 | 4329 | 138492 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 287 | 4329 | 138492 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 287 | 4329 | 138492 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 982 | 15465 | 603930 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 982 | 15465 | 603930 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 982 | 15465 | 603930 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 982 | 15465 | 603930 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 225 | 9476 | 602194 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 225 | 9476 | 602194 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 225 | 9476 | 602194 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 225 | 9476 | 602194 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 735 | 4851 | 613004 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 735 | 4851 | 613004 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 735 | 4851 | 613004 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 735 | 4851 | 613004 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 157 | 33882 | 607875 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 157 | 33882 | 607875 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 157 | 33882 | 607875 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 157 | 33882 | 607875 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | ITM2B CL E G H | 9445 | 176500 | Dementia familial British | 176500 | C1867773 | OMIM | 1 | | 114 | 6174 | 603904 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | ITM2B CL E G H | 9445 | 176500 | Dementia familial British | 176500 | C1867773 | OMIM | 1 | | 114 | 6174 | 603904 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | ITM2B CL E G H | 9445 | 176500 | Dementia familial British | 176500 | C1867773 | OMIM | 1 | | 114 | 6174 | 603904 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | ITM2B CL E G H | 9445 | 176500 | Dementia familial British | 176500 | C1867773 | OMIM | 1 | | 114 | 6174 | 603904 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 125 | 14203 | 605268 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 125 | 14203 | 605268 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 125 | 14203 | 605268 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 125 | 14203 | 605268 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | LDHA CL E G H | 3939 | 612933 | Glycogen storage disease XI | 612933 | C2752022 | OMIM | 1 | | 145 | 6535 | 150000 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | LDHA CL E G H | 3939 | 612933 | Glycogen storage disease XI | 612933 | C2752022 | OMIM | 1 | | 145 | 6535 | 150000 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | LDHA CL E G H | 3939 | 612933 | Glycogen storage disease XI | 612933 | C2752022 | OMIM | 1 | | 145 | 6535 | 150000 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | LDHA CL E G H | 3939 | 612933 | Glycogen storage disease XI | 612933 | C2752022 | OMIM | 1 | | 145 | 6535 | 150000 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | LNPK CL E G H | 80856 | 618090 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM | 618090 | CN252703 | OMIM | 1 | | 44 | 21610 | 610236 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | LNPK CL E G H | 80856 | 618090 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM | 618090 | CN252703 | OMIM | 1 | | 44 | 21610 | 610236 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | LNPK CL E G H | 80856 | 618090 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM | 618090 | CN252703 | OMIM | 1 | | 44 | 21610 | 610236 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | LNPK CL E G H | 80856 | 618090 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM | 618090 | CN252703 | OMIM | 1 | | 44 | 21610 | 610236 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | MECP2 CL E G H | 4204 | 300260 | MECP2 duplication syndrome | 300260 | C1846058 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | MECP2 CL E G H | 4204 | 300260 | MECP2 duplication syndrome | 300260 | C1846058 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | MECP2 CL E G H | 4204 | 300260 | MECP2 duplication syndrome | 300260 | C1846058 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | MECP2 CL E G H | 4204 | 300260 | MECP2 duplication syndrome | 300260 | C1846058 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | NDUFAF6 CL E G H | 137682 | 618239 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | 618239 | | OMIM | 1 | | 198 | 28625 | 612392 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | NDUFAF6 CL E G H | 137682 | 618239 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | 618239 | | OMIM | 1 | | 198 | 28625 | 612392 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | NDUFAF6 CL E G H | 137682 | 618239 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | 618239 | | OMIM | 1 | | 198 | 28625 | 612392 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | NDUFAF6 CL E G H | 137682 | 618239 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | 618239 | | OMIM | 1 | | 198 | 28625 | 612392 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 112 | 7981 | 601828 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 112 | 7981 | 601828 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 112 | 7981 | 601828 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 112 | 7981 | 601828 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PANK2 CL E G H | 80025 | 216873 | | | | ORPHA | 1 | | 371 | 15894 | 606157 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | PANK2 CL E G H | 80025 | 216873 | | | | ORPHA | 1 | | 371 | 15894 | 606157 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PANK2 CL E G H | 80025 | 216873 | | | | ORPHA | 1 | | 371 | 15894 | 606157 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | PANK2 CL E G H | 80025 | 216873 | | | | ORPHA | 1 | | 371 | 15894 | 606157 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 371 | 15894 | 606157 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 371 | 15894 | 606157 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 371 | 15894 | 606157 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 371 | 15894 | 606157 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PARK7 CL E G H | 11315 | 606324 | Parkinson disease 7 | 606324 | C1853445 | OMIM | 1 | | 160 | 16369 | 602533 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | PARK7 CL E G H | 11315 | 606324 | Parkinson disease 7 | 606324 | C1853445 | OMIM | 1 | | 160 | 16369 | 602533 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PARK7 CL E G H | 11315 | 606324 | Parkinson disease 7 | 606324 | C1853445 | OMIM | 1 | | 160 | 16369 | 602533 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | PARK7 CL E G H | 11315 | 606324 | Parkinson disease 7 | 606324 | C1853445 | OMIM | 1 | | 160 | 16369 | 602533 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PDE8B CL E G H | 8622 | 228169 | Autosomal dominant striatal neurodegeneration | | C1836694 | ORPHA | 1 | | 179 | 8794 | 603390 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | PDE8B CL E G H | 8622 | 228169 | Autosomal dominant striatal neurodegeneration | | C1836694 | ORPHA | 1 | | 179 | 8794 | 603390 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PDE8B CL E G H | 8622 | 228169 | Autosomal dominant striatal neurodegeneration | | C1836694 | ORPHA | 1 | | 179 | 8794 | 603390 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | PDE8B CL E G H | 8622 | 228169 | Autosomal dominant striatal neurodegeneration | | C1836694 | ORPHA | 1 | | 179 | 8794 | 603390 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PDE8B CL E G H | 8622 | 609161 | Striatal degeneration, autosomal dominant 1 | 609161 | C4310808 | OMIM | 1 | | 179 | 8794 | 603390 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | PDE8B CL E G H | 8622 | 609161 | Striatal degeneration, autosomal dominant 1 | 609161 | C4310808 | OMIM | 1 | | 179 | 8794 | 603390 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PDE8B CL E G H | 8622 | 609161 | Striatal degeneration, autosomal dominant 1 | 609161 | C4310808 | OMIM | 1 | | 179 | 8794 | 603390 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | PDE8B CL E G H | 8622 | 609161 | Striatal degeneration, autosomal dominant 1 | 609161 | C4310808 | OMIM | 1 | | 179 | 8794 | 603390 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 345 | 8804 | 173410 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 345 | 8804 | 173410 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 345 | 8804 | 173410 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 345 | 8804 | 173410 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PINK1 CL E G H | 65018 | 605909 | Parkinson disease 6, autosomal recessive early-onset | 605909 | C1853833 | OMIM | 1 | | 301 | 14581 | 608309 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | PINK1 CL E G H | 65018 | 605909 | Parkinson disease 6, autosomal recessive early-onset | 605909 | C1853833 | OMIM | 1 | | 301 | 14581 | 608309 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PINK1 CL E G H | 65018 | 605909 | Parkinson disease 6, autosomal recessive early-onset | 605909 | C1853833 | OMIM | 1 | | 301 | 14581 | 608309 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | PINK1 CL E G H | 65018 | 605909 | Parkinson disease 6, autosomal recessive early-onset | 605909 | C1853833 | OMIM | 1 | | 301 | 14581 | 608309 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 1 | | 598 | 9039 | 603604 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 1 | | 598 | 9039 | 603604 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 1 | | 598 | 9039 | 603604 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 1 | | 598 | 9039 | 603604 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PLA2G6 CL E G H | 8398 | 612953 | Parkinson disease 14 | 612953 | C2751842 | OMIM | 1 | | 598 | 9039 | 603604 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | PLA2G6 CL E G H | 8398 | 612953 | Parkinson disease 14 | 612953 | C2751842 | OMIM | 1 | | 598 | 9039 | 603604 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PLA2G6 CL E G H | 8398 | 612953 | Parkinson disease 14 | 612953 | C2751842 | OMIM | 1 | | 598 | 9039 | 603604 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | PLA2G6 CL E G H | 8398 | 612953 | Parkinson disease 14 | 612953 | C2751842 | OMIM | 1 | | 598 | 9039 | 603604 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 338 | 9043 | 603873 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 338 | 9043 | 603873 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 338 | 9043 | 603873 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 338 | 9043 | 603873 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PLAA CL E G H | 9373 | 617527 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES | 617527 | C4479631 | OMIM | 1 | | 338 | 9043 | 603873 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | PLAA CL E G H | 9373 | 617527 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES | 617527 | C4479631 | OMIM | 1 | | 338 | 9043 | 603873 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PLAA CL E G H | 9373 | 617527 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES | 617527 | C4479631 | OMIM | 1 | | 338 | 9043 | 603873 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | PLAA CL E G H | 9373 | 617527 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES | 617527 | C4479631 | OMIM | 1 | | 338 | 9043 | 603873 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 134 | 9171 | 602632 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 134 | 9171 | 602632 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 134 | 9171 | 602632 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 134 | 9171 | 602632 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PRKN CL E G H | 5071 | 600116 | Parkinson disease 2 | 600116 | C1868675 | OMIM | 1 | | 655 | 8607 | 602544 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | PRKN CL E G H | 5071 | 600116 | Parkinson disease 2 | 600116 | C1868675 | OMIM | 1 | | 655 | 8607 | 602544 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PRKN CL E G H | 5071 | 600116 | Parkinson disease 2 | 600116 | C1868675 | OMIM | 1 | | 655 | 8607 | 602544 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | PRKN CL E G H | 5071 | 600116 | Parkinson disease 2 | 600116 | C1868675 | OMIM | 1 | | 655 | 8607 | 602544 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PRNP CL E G H | 5621 | 603218 | Huntington disease-like 1 | 603218 | C1864112 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | PRNP CL E G H | 5621 | 603218 | Huntington disease-like 1 | 603218 | C1864112 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PRNP CL E G H | 5621 | 603218 | Huntington disease-like 1 | 603218 | C1864112 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | PRNP CL E G H | 5621 | 603218 | Huntington disease-like 1 | 603218 | C1864112 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 214 | 9689 | 612719 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 214 | 9689 | 612719 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 214 | 9689 | 612719 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 214 | 9689 | 612719 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 1085 | 9848 | 601181 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 1085 | 9848 | 601181 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 1085 | 9848 | 601181 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 1085 | 9848 | 601181 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | REEP2 CL E G H | 51308 | 401849 | | | | ORPHA | 1 | | 76 | 17975 | 609347 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | REEP2 CL E G H | 51308 | 401849 | | | | ORPHA | 1 | | 76 | 17975 | 609347 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | REEP2 CL E G H | 51308 | 401849 | | | | ORPHA | 1 | | 76 | 17975 | 609347 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | REEP2 CL E G H | 51308 | 401849 | | | | ORPHA | 1 | | 76 | 17975 | 609347 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 214 | 34016 | 601428 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 214 | 34016 | 601428 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 214 | 34016 | 601428 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 214 | 34016 | 601428 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | RYR1 CL E G H | 6261 | 145600 | Malignant hyperthermia, susceptibility to, 1 | 145600 | CN031421 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | RYR1 CL E G H | 6261 | 145600 | Malignant hyperthermia, susceptibility to, 1 | 145600 | CN031421 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | RYR1 CL E G H | 6261 | 145600 | Malignant hyperthermia, susceptibility to, 1 | 145600 | CN031421 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | RYR1 CL E G H | 6261 | 145600 | Malignant hyperthermia, susceptibility to, 1 | 145600 | CN031421 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | SIL1 CL E G H | 64374 | 559 | | | | ORPHA | 1 | | 229 | 24624 | 608005 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | SIL1 CL E G H | 64374 | 559 | | | | ORPHA | 1 | | 229 | 24624 | 608005 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | SIL1 CL E G H | 64374 | 559 | | | | ORPHA | 1 | | 229 | 24624 | 608005 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SIL1 CL E G H | 64374 | 559 | | | | ORPHA | 1 | | 229 | 24624 | 608005 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 482 | 16266 | 606152 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 482 | 16266 | 606152 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 482 | 16266 | 606152 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 482 | 16266 | 606152 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 281 | 10947 | 158378 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 281 | 10947 | 158378 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 281 | 10947 | 158378 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 281 | 10947 | 158378 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 188 | 25355 | 611146 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 188 | 25355 | 611146 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 188 | 25355 | 611146 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 188 | 25355 | 611146 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 188 | 25355 | 611146 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 188 | 25355 | 611146 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 188 | 25355 | 611146 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 188 | 25355 | 611146 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 479 | 11049 | 126455 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 479 | 11049 | 126455 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 479 | 11049 | 126455 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 479 | 11049 | 126455 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 532 | 11051 | 604159 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 532 | 11051 | 604159 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 532 | 11051 | 604159 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 532 | 11051 | 604159 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | SMPD1 CL E G H | 6609 | 257200 | Niemann-Pick disease, type A | 257200 | C0268242 | OMIM | 1 | | 747 | 11120 | 607608 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SMPD1 CL E G H | 6609 | 257200 | Niemann-Pick disease, type A | 257200 | C0268242 | OMIM | 1 | | 747 | 11120 | 607608 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | SMPD1 CL E G H | 6609 | 257200 | Niemann-Pick disease, type A | 257200 | C0268242 | OMIM | 1 | | 747 | 11120 | 607608 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | SMPD1 CL E G H | 6609 | 257200 | Niemann-Pick disease, type A | 257200 | C0268242 | OMIM | 1 | | 747 | 11120 | 607608 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 177 | 11138 | 163890 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 177 | 11138 | 163890 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 177 | 11138 | 163890 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 177 | 11138 | 163890 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 118 | 11139 | 603779 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 118 | 11139 | 603779 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 118 | 11139 | 603779 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 118 | 11139 | 603779 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | SPR CL E G H | 6697 | 70594 | | | | ORPHA | 1 | | 160 | 11257 | 182125 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SPR CL E G H | 6697 | 70594 | | | | ORPHA | 1 | | 160 | 11257 | 182125 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | SPR CL E G H | 6697 | 70594 | | | | ORPHA | 1 | | 160 | 11257 | 182125 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | SPR CL E G H | 6697 | 70594 | | | | ORPHA | 1 | | 160 | 11257 | 182125 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 1046 | 11503 | 604297 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 1046 | 11503 | 604297 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 1046 | 11503 | 604297 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 1046 | 11503 | 604297 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 1 | | 1046 | 11503 | 604297 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 1 | | 1046 | 11503 | 604297 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 1 | | 1046 | 11503 | 604297 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 1 | | 1046 | 11503 | 604297 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 116 | 11588 | 600075 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 116 | 11588 | 600075 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 116 | 11588 | 600075 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 116 | 11588 | 600075 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 116 | 11588 | 600075 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 116 | 11588 | 600075 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 116 | 11588 | 600075 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 116 | 11588 | 600075 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 794 | 11782 | 191290 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 794 | 11782 | 191290 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 794 | 11782 | 191290 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 794 | 11782 | 191290 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 1 | | 794 | 11782 | 191290 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 1 | | 794 | 11782 | 191290 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 1 | | 794 | 11782 | 191290 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 1 | | 794 | 11782 | 191290 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | TMEM240 CL E G H | 339453 | 98773 | | | | ORPHA | 1 | | 192 | 25186 | 616101 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | TMEM240 CL E G H | 339453 | 98773 | | | | ORPHA | 1 | | 192 | 25186 | 616101 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | TMEM240 CL E G H | 339453 | 98773 | | | | ORPHA | 1 | | 192 | 25186 | 616101 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | TMEM240 CL E G H | 339453 | 98773 | | | | ORPHA | 1 | | 192 | 25186 | 616101 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | TNNT1 CL E G H | 7138 | 605355 | Nemaline myopathy 5 | 605355 | C1854380 | OMIM | 1 | | 298 | 11948 | 191041 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | TNNT1 CL E G H | 7138 | 605355 | Nemaline myopathy 5 | 605355 | C1854380 | OMIM | 1 | | 298 | 11948 | 191041 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | TNNT1 CL E G H | 7138 | 605355 | Nemaline myopathy 5 | 605355 | C1854380 | OMIM | 1 | | 298 | 11948 | 191041 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | TNNT1 CL E G H | 7138 | 605355 | Nemaline myopathy 5 | 605355 | C1854380 | OMIM | 1 | | 298 | 11948 | 191041 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | TUBB4A CL E G H | 10382 | 612438 | Leukodystrophy, hypomyelinating, 6 | 612438 | C2676244 | OMIM | 1 | | 219 | 20774 | 602662 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | TUBB4A CL E G H | 10382 | 612438 | Leukodystrophy, hypomyelinating, 6 | 612438 | C2676244 | OMIM | 1 | | 219 | 20774 | 602662 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | TUBB4A CL E G H | 10382 | 612438 | Leukodystrophy, hypomyelinating, 6 | 612438 | C2676244 | OMIM | 1 | | 219 | 20774 | 602662 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | TUBB4A CL E G H | 10382 | 612438 | Leukodystrophy, hypomyelinating, 6 | 612438 | C2676244 | OMIM | 1 | | 219 | 20774 | 602662 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 55 | 12511 | 600673 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 55 | 12511 | 600673 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 55 | 12511 | 600673 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 55 | 12511 | 600673 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 504 | 28912 | 300526 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 504 | 28912 | 300526 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 504 | 28912 | 300526 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 504 | 28912 | 300526 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 504 | 28912 | 300526 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 504 | 28912 | 300526 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 504 | 28912 | 300526 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 504 | 28912 | 300526 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | WWOX CL E G H | 51741 | 616211 | Epileptic encephalopathy, early infantile, 28 | 616211 | C4015519 | OMIM | 1 | | 967 | 12799 | 605131 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | WWOX CL E G H | 51741 | 616211 | Epileptic encephalopathy, early infantile, 28 | 616211 | C4015519 | OMIM | 1 | | 967 | 12799 | 605131 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | WWOX CL E G H | 51741 | 616211 | Epileptic encephalopathy, early infantile, 28 | 616211 | C4015519 | OMIM | 1 | | 967 | 12799 | 605131 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | WWOX CL E G H | 51741 | 616211 | Epileptic encephalopathy, early infantile, 28 | 616211 | C4015519 | OMIM | 1 | | 967 | 12799 | 605131 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | ABCA12 CL E G H | 26154 | 242500 | Autosomal recessive congenital ichthyosis 4B | 242500 | C0239849 | OMIM | 1 | | 381 | 14637 | 607800 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 818 | 225 | 146920 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | ARX CL E G H | 170302 | 3175 | | | | ORPHA | 1 | | 679 | 18060 | 300382 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 116 | 25903 | 614452 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 738 | 30213 | 610513 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | ATXN8 CL E G H | 724066 | 98760 | | | | ORPHA | 1 | | 2 | 32925 | 613289 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 1 | | 79 | 10561 | 603680 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 1 | | 173 | 28337 | 614260 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 175 | 29932 | 609855 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | COQ2 CL E G H | 27235 | 98933 | | | | ORPHA | 1 | | 205 | 25223 | 609825 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | CRYAB CL E G H | 1410 | 613869 | Fatal infantile hypertonic myofibrillar myopathy | 613869 | C3151236 | OMIM | 1 | | 230 | 2389 | 123590 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | CSF1R CL E G H | 1436 | 221820 | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | C3711381 | OMIM | 1 | | 518 | 2433 | 164770 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 527 | 2529 | 116840 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | DCTN1 CL E G H | 1639 | 168605 | Perry syndrome | 168605 | C1868594 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | DDHD1 CL E G H | 80821 | 101008 | | | | ORPHA | 1 | | 302 | 19714 | 614603 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 1 | | 216 | 2859 | 606418 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | DHDDS CL E G H | 79947 | 617836 | DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | 617836 | CN769090 | OMIM | 1 | | 318 | 20603 | 608172 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 235 | 15469 | 608375 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 1 | | 235 | 15469 | 608375 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 191 | 13586 | 605648 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | FBXO7 CL E G H | 25793 | 260300 | Parkinson disease 15 | 260300 | C1850100 | OMIM | 1 | | 191 | 13586 | 605648 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 688 | 3688 | 136350 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 255 | 26927 | 613622 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 341 | 1362 | 604574 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 151 | 3999 | 134790 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | GBA CL E G H | 2629 | 230900 | Acute neuronopathic Gaucher's disease | 230900 | C0268250 | OMIM | 1 | | | 4177 | 606463 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | GCDH CL E G H | 2639 | 231670 | Glutaric aciduria, type 1 | 231670 | C0268595 | OMIM | 1 | | 600 | 4189 | 608801 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | GCH1 CL E G H | 2643 | 98808 | | | | ORPHA | 1 | | 364 | 4193 | 600225 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 364 | 4193 | 600225 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 381 | 4326 | 138491 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 287 | 4329 | 138492 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 982 | 15465 | 603930 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 225 | 9476 | 602194 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 735 | 4851 | 613004 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 157 | 33882 | 607875 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | ITM2B CL E G H | 9445 | 176500 | Dementia familial British | 176500 | C1867773 | OMIM | 1 | | 114 | 6174 | 603904 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 125 | 14203 | 605268 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | LDHA CL E G H | 3939 | 612933 | Glycogen storage disease XI | 612933 | C2752022 | OMIM | 1 | | 145 | 6535 | 150000 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | LNPK CL E G H | 80856 | 618090 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM | 618090 | CN252703 | OMIM | 1 | | 44 | 21610 | 610236 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | MECP2 CL E G H | 4204 | 300260 | MECP2 duplication syndrome | 300260 | C1846058 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | NDUFAF6 CL E G H | 137682 | 618239 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | 618239 | | OMIM | 1 | | 198 | 28625 | 612392 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 112 | 7981 | 601828 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | PANK2 CL E G H | 80025 | 216873 | | | | ORPHA | 1 | | 371 | 15894 | 606157 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 371 | 15894 | 606157 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | PARK7 CL E G H | 11315 | 606324 | Parkinson disease 7 | 606324 | C1853445 | OMIM | 1 | | 160 | 16369 | 602533 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | PDE8B CL E G H | 8622 | 228169 | Autosomal dominant striatal neurodegeneration | | C1836694 | ORPHA | 1 | | 179 | 8794 | 603390 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | PDE8B CL E G H | 8622 | 609161 | Striatal degeneration, autosomal dominant 1 | 609161 | C4310808 | OMIM | 1 | | 179 | 8794 | 603390 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 345 | 8804 | 173410 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | PINK1 CL E G H | 65018 | 605909 | Parkinson disease 6, autosomal recessive early-onset | 605909 | C1853833 | OMIM | 1 | | 301 | 14581 | 608309 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 1 | | 598 | 9039 | 603604 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | PLA2G6 CL E G H | 8398 | 612953 | Parkinson disease 14 | 612953 | C2751842 | OMIM | 1 | | 598 | 9039 | 603604 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 338 | 9043 | 603873 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | PLAA CL E G H | 9373 | 617527 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES | 617527 | C4479631 | OMIM | 1 | | 338 | 9043 | 603873 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 134 | 9171 | 602632 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | PRKN CL E G H | 5071 | 600116 | Parkinson disease 2 | 600116 | C1868675 | OMIM | 1 | | 655 | 8607 | 602544 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | PRNP CL E G H | 5621 | 603218 | Huntington disease-like 1 | 603218 | C1864112 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 214 | 9689 | 612719 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 1085 | 9848 | 601181 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | REEP2 CL E G H | 51308 | 401849 | | | | ORPHA | 1 | | 76 | 17975 | 609347 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 214 | 34016 | 601428 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | RYR1 CL E G H | 6261 | 145600 | Malignant hyperthermia, susceptibility to, 1 | 145600 | CN031421 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | SIL1 CL E G H | 64374 | 559 | | | | ORPHA | 1 | | 229 | 24624 | 608005 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 482 | 16266 | 606152 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 281 | 10947 | 158378 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 188 | 25355 | 611146 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 188 | 25355 | 611146 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 479 | 11049 | 126455 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 532 | 11051 | 604159 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | SMPD1 CL E G H | 6609 | 257200 | Niemann-Pick disease, type A | 257200 | C0268242 | OMIM | 1 | | 747 | 11120 | 607608 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 177 | 11138 | 163890 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 118 | 11139 | 603779 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | SPR CL E G H | 6697 | 70594 | | | | ORPHA | 1 | | 160 | 11257 | 182125 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 1046 | 11503 | 604297 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 1 | | 1046 | 11503 | 604297 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 116 | 11588 | 600075 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 116 | 11588 | 600075 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 794 | 11782 | 191290 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 1 | | 794 | 11782 | 191290 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | TMEM240 CL E G H | 339453 | 98773 | | | | ORPHA | 1 | | 192 | 25186 | 616101 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | TNNT1 CL E G H | 7138 | 605355 | Nemaline myopathy 5 | 605355 | C1854380 | OMIM | 1 | | 298 | 11948 | 191041 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | TUBB4A CL E G H | 10382 | 612438 | Leukodystrophy, hypomyelinating, 6 | 612438 | C2676244 | OMIM | 1 | | 219 | 20774 | 602662 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 55 | 12511 | 600673 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 504 | 28912 | 300526 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 504 | 28912 | 300526 |
HP:0002063 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | WWOX CL E G H | 51741 | 616211 | Epileptic encephalopathy, early infantile, 28 | 616211 | C4015519 | OMIM | 1 | | 967 | 12799 | 605131 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002063 | HP:0002063 | Rigidity | 0 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0002063 | HP:0002063 | Rigidity | 0 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 0 | | 392 | 129 | 102610 |
HP:0002063 | HP:0002063 | Rigidity | 0 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 0 | | 385 | 315 | 604581 |
HP:0002063 | HP:0002063 | Rigidity | 0 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 437 | 567 | 602166 |
HP:0002063 | HP:0002063 | Rigidity | 0 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 71 | 29561 | 611647 |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATL1 CL E G H | 51062 | 100984 | | | | ORPHA | 0 | | 408 | 11231 | 606439 |
HP:0002063 | HP:0002063 | Rigidity | 0 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 123 | 851 | 607027 |
HP:0002063 | HP:0002063 | Rigidity | 0 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 2689 | 1388 | 601011 |
HP:0002063 | HP:0002063 | Rigidity | 0 | CASK CL E G H | 8573 | 163937 | | | | ORPHA | 0 | | 706 | 1497 | 300172 |
HP:0002063 | HP:0002063 | Rigidity | 0 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 390 | 2092 | 118955 |
HP:0002063 | HP:0002063 | Rigidity | 0 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 264 | 19701 | 300724 |
HP:0002063 | HP:0002063 | Rigidity | 0 | COQ2 CL E G H | 27235 | 227510 | | | | ORPHA | 0 | | 205 | 25223 | 609825 |
HP:0002063 | HP:0002063 | Rigidity | 0 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 416 | 13760 | 606323 |
HP:0002063 | HP:0002063 | Rigidity | 0 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 318 | 20603 | 608172 |
HP:0002063 | HP:0002063 | Rigidity | 0 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 0 | | 165 | 30343 | 614334 |
HP:0002063 | HP:0002063 | Rigidity | 0 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 622 | 2972 | 602377 |
HP:0002063 | HP:0002063 | Rigidity | 0 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 493 | 3192 | 602959 |
HP:0002063 | HP:0002063 | Rigidity | 0 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 0 | | 94 | 3296 | 600495 |
HP:0002063 | HP:0002063 | Rigidity | 0 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 210 | 3668 | 601513 |
HP:0002063 | HP:0002063 | Rigidity | 0 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 421 | 4082 | 600232 |
HP:0002063 | HP:0002063 | Rigidity | 0 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0002063 | HP:0002063 | Rigidity | 0 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 0 | | 255 | 11960 | 612003 |
HP:0002063 | HP:0002063 | Rigidity | 0 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 519 | 4588 | 602717 |
HP:0002063 | HP:0002063 | Rigidity | 0 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 635 | 4845 | 602780 |
HP:0002063 | HP:0002063 | Rigidity | 0 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 0 | | 735 | 4851 | 613004 |
HP:0002063 | HP:0002063 | Rigidity | 0 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 325 | 6220 | 176262 |
HP:0002063 | HP:0002063 | Rigidity | 0 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 518 | 6231 | 600397 |
HP:0002063 | HP:0002063 | Rigidity | 0 | KIF11 CL E G H | 3832 | 2526 | | | | ORPHA | 0 | | 605 | 6388 | 148760 |
HP:0002063 | HP:0002063 | Rigidity | 0 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 0 | | 2226 | 18618 | 609007 |
HP:0002063 | HP:0002063 | Rigidity | 0 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 0 | | 1754 | 1968 | 606897 |
HP:0002063 | HP:0002063 | Rigidity | 0 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 0 | | 422 | 7154 | 120520 |
HP:0002063 | HP:0002063 | Rigidity | 0 | MYO5A CL E G H | 4644 | 33445 | | | | ORPHA | 0 | | 249 | 7602 | 160777 |
HP:0002063 | HP:0002063 | Rigidity | 0 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 167 | 24539 | 611623 |
HP:0002063 | HP:0002063 | Rigidity | 0 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 333 | 8032 | 600456 |
HP:0002063 | HP:0002063 | Rigidity | 0 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 220 | 21042 | 610463 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PNKD CL E G H | 25953 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 426 | 9153 | 609023 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 233 | 9314 | 114105 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 0 | | 290 | 9402 | 176980 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PRRT2 CL E G H | 112476 | 98810 | Paroxysmal non-kinesigenic dyskinesia | | C1869117 | ORPHA | 0 | | 702 | 30500 | 614386 |
HP:0002063 | HP:0002063 | Rigidity | 0 | PTS CL E G H | 5805 | 13 | Brain malformation | | C0266449 | ORPHA | 0 | | 214 | 9689 | 612719 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1096 | 10590 | 182391 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1494 | 10596 | 600702 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 568 | 23089 | 608305 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 236 | 10940 | 600300 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 0 | | 177 | 11138 | 163890 |
HP:0002063 | HP:0002063 | Rigidity | 0 | STUB1 CL E G H | 10273 | 412057 | | | | ORPHA | 0 | | 170 | 11427 | 607207 |
HP:0002063 | HP:0002063 | Rigidity | 0 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 871 | 11444 | 602926 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1086 | 11497 | 603384 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1046 | 11503 | 604297 |
HP:0002063 | HP:0002063 | Rigidity | 0 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2342 | 29040 | 615463 |
HP:0002063 | HP:0002063 | Rigidity | 0 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 106 | 29947 | 608112 |
HP:0002063 | HP:0002063 | Rigidity | 0 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 157 | 23230 | 610552 |
HP:0002063 | HP:0002063 | Rigidity | 0 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 521 | 23594 | 608879 |
HP:0002063 | HP:0002063 | Rigidity | 0 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 0 | | 184 | 13487 | 601501 |
HP:0002063 | HP:0002063 | Rigidity | 0 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 967 | 12799 | 605131 |
HP:0002063 | HP:0002063 | Rigidity | 0 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 128 | 12852 | 605356 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 0 | | 392 | 129 | 102610 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 0 | | 392 | 129 | 102610 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 0 | | 392 | 129 | 102610 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 0 | | 392 | 129 | 102610 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 0 | | 385 | 315 | 604581 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 0 | | 385 | 315 | 604581 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 0 | | 385 | 315 | 604581 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 0 | | 385 | 315 | 604581 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 437 | 567 | 602166 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 437 | 567 | 602166 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 437 | 567 | 602166 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 437 | 567 | 602166 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 71 | 29561 | 611647 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 71 | 29561 | 611647 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 71 | 29561 | 611647 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 71 | 29561 | 611647 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | ATL1 CL E G H | 51062 | 100984 | | | | ORPHA | 0 | | 408 | 11231 | 606439 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | ATL1 CL E G H | 51062 | 100984 | | | | ORPHA | 0 | | 408 | 11231 | 606439 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | ATL1 CL E G H | 51062 | 100984 | | | | ORPHA | 0 | | 408 | 11231 | 606439 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | ATL1 CL E G H | 51062 | 100984 | | | | ORPHA | 0 | | 408 | 11231 | 606439 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 123 | 851 | 607027 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 123 | 851 | 607027 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 123 | 851 | 607027 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 123 | 851 | 607027 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 2689 | 1388 | 601011 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 2689 | 1388 | 601011 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 2689 | 1388 | 601011 |
HP:0002063 | HP:0011444 | Decorticate rigidity | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 2689 | 1388 | 601011 |
HP:0002063 | HP:0025013 | Decerebrate rigidity | 1 | CASK CL E G H | 8573 | 163937 | | | | ORPHA | 0 | | 706 | 1497 | 300172 |
HP:0002063 | HP:0002396 | Cogwheel rigidity | 1 | CASK CL E G H | 8573 | 163937 | | | | ORPHA | 0 | | 706 | 1497 | 300172 |
HP:0002063 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | CASK CL E |