Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | AARS1 CL E G H | 16 | 20 | OMIM:616339 | Epileptic encephalopathy, early infantile, 29 | | | | | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:97240 | Zebra body myopathy | | | | 96 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | | | | 93 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 114 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | ANO3 CL E G H | 63982 | 14004 | ORPHA:420485 | Cranio-cervical dystonia with laryngeal and upper-limb involvement | | | | 17 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | ANO3 CL E G H | 63982 | 14004 | OMIM:615034 | Dystonia 24 | | | | 17 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | AOPEP CL E G H | 84909 | 1361 | OMIM:619565 | DYSTONIA 31; DYT31 | | | | | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | ATN1 CL E G H | 1822 | 3033 | ORPHA:101 | Dentatorubral pallidoluysian atrophy | | | | 16 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:128235 | Dystonia 12 | | | | 150 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:71517 | Rapid-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 150 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | | | | 38 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | | | | 114 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:71518 | Benign paroxysmal torticollis of infancy | | | | 449 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:97 | Familial paroxysmal ataxia | | | | 449 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:98758 | Spinocerebellar ataxia type 6 | | | | 449 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | | | | 2 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | CEP85L CL E G H | 387119 | 21638 | OMIM:618873 | LISSENCEPHALY 10; LIS10 | | | | 1 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | CIZ1 CL E G H | 25792 | 16744 | ORPHA:420492 | Adult-onset cervical dystonia, DYT23 type | HP:0040282 - Frequent | | | 16 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | CNP CL E G H | 1267 | 2158 | OMIM:619071 | LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20 | | | | | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | COASY CL E G H | 80347 | 29932 | ORPHA:397725 | COASY protein-associated neurodegeneration | | | | 16 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | | | | 16 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 65 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:158810 | Bethlem myopathy 1 | | | | 442 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 442 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 442 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:158810 | Bethlem myopathy 1 | | | | 478 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 478 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 478 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:158810 | Bethlem myopathy 1 | | | | 702 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 702 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:616411 | Dystonia 27 | | | | 702 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:464440 | Primary dystonia, DYT27 type | | | | 702 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 702 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | COLEC11 CL E G H | 78989 | 17213 | OMIM:265050 | 3mc syndrome 2 | | | | 9 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | HP:0040283 - Occasional | | | 115 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | CP CL E G H | 1356 | 2295 | OMIM:604290 | ACERULOPLASMINEMIA | | | | 115 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:352582 | Familial infantile myoclonic epilepsy | | | | 1 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | | | | 43 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | DRD2 CL E G H | 1813 | 3023 | ORPHA:36899 | Myoclonus-dystonia syndrome | | | | 16 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | DRD5 CL E G H | 1816 | 3026 | OMIM:606798 | Blepharospasm, benign essential, susceptibility to | | | | 3 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 145 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:370348 | Peripheral primitive neuroectodermal tumor | | | | 8 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | FTL CL E G H | 2512 | 3999 | OMIM:606159 | Neurodegeneration with brain iron accumulation 3 | | | | 33 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | | | | 33 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 105 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | | | | 86 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | GDAP2 CL E G H | 54834 | 18010 | OMIM:618369 | Spinocerebellar ataxia, autosomal recessive 27 | | | | | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | GNAL CL E G H | 2774 | 4388 | ORPHA:329466 | Autosomal dominant focal dystonia, DYT25 type | HP:0040282 - Frequent | | | 13 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | GNAL CL E G H | 2774 | 4388 | OMIM:615073 | Dystonia 25 | | | | 13 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | HPCA CL E G H | 3208 | 5144 | OMIM:224500 | Dystonia 2, torsion, autosomal recessive | | | | 4 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | HPCA CL E G H | 3208 | 5144 | ORPHA:99657 | Primary dystonia, DYT2 type | | | | 4 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | | | | 345 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | | | | 1 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | ITGA7 CL E G H | 3679 | 6143 | OMIM:613204 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | | | | 127 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | | | | 17 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619724 | DYSTONIA 34, MYOCLONIC; DYT34 | | | | | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | KCTD17 CL E G H | 79734 | 25705 | OMIM:616398 | Dystonia 26, myoclonic | | | | 1 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | KCTD17 CL E G H | 79734 | 25705 | ORPHA:36899 | Myoclonus-dystonia syndrome | | | | 1 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | KIF1C CL E G H | 10749 | 6317 | ORPHA:397946 | Autosomal spastic paraplegia type 58 | | | | 38 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | KMT2B CL E G H | 9757 | 15840 | ORPHA:589618 | Dystonia 28 | | | | 11 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:617284 | Dystonia 28, childhood-onset | . | | | 11 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | | | | 140 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | | | | 140 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | | | | 140 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | MECR CL E G H | 51102 | 19691 | OMIM:617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | . | | | 6 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | MECR CL E G H | 51102 | 19691 | ORPHA:508093 | MEPAN syndrome | | | | 6 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | MYF5 CL E G H | 4617 | 7565 | OMIM:618155 | Ophthalmoplegia, external, with rib and vertebral anomalies | | | | | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:276432 | Ogden syndrome | | | | 23 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | NAXE CL E G H | 128240 | 18453 | OMIM:617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | | | | 9 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | | | | 1 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | | | | 9 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | | | | 32 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | NKX6-2 CL E G H | 84504 | 19321 | OMIM:617560 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | | | | 2 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | | | | 27 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216873 | Atypical pantothenate kinase-associated neurodegeneration | | | | 55 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | | | | 55 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | PARK7 CL E G H | 11315 | 16369 | OMIM:606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | | | | 23 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | | | | | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | PNKD CL E G H | 25953 | 9153 | ORPHA:98810 | Paroxysmal non-kinesigenic dyskinesia | | | | 66 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | PNKD CL E G H | 25953 | 9153 | OMIM:118800 | Paroxysmal nonkinesigenic dyskinesia 1 | | | | 66 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | | | | | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | | | | 38 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | | | | 31 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | PRDX3 CL E G H | 10935 | 9354 | OMIM:619862 | | | | | | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | PRKRA CL E G H | 8575 | 9438 | ORPHA:210571 | Dystonia 16 | | | | 37 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | PRKRA CL E G H | 8575 | 9438 | OMIM:612067 | Dystonia 16 | | | | 37 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:98810 | Paroxysmal non-kinesigenic dyskinesia | | | | 94 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | RNF170 CL E G H | 81790 | 25358 | OMIM:619686 | SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85 | | | | 3 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | ROBO3 CL E G H | 64221 | 13433 | OMIM:607313 | Gaze palsy, familial horizontal, with progressive scoliosis, 1 | | | | 90 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | SCP2 CL E G H | 6342 | 10606 | OMIM:613724 | Leukoencephalopathy with dystonia and motor neuropathy | | | | 4 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | SGCE CL E G H | 8910 | 10808 | OMIM:159900 | Dystonia 11, myoclonic | | | | 49 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | SGCE CL E G H | 8910 | 10808 | ORPHA:36899 | Myoclonus-dystonia syndrome | | | | 49 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 6 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | . | | | 110 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | SLC39A14 CL E G H | 23516 | 20858 | ORPHA:521406 | Dystonia-parkinsonism-hypermanganesemia syndrome | | | | 5 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | SLC6A3 CL E G H | 6531 | 11049 | OMIM:613135 | Parkinsonism-Dystonia, infantile, 1 | | | | 13 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 287 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 54 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | STARD7 CL E G H | 56910 | 18063 | OMIM:607876 | Epilepsy, familial adult myoclonic, 2 | | | | | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | SYNGAP1 CL E G H | 8831 | 11497 | OMIM:612621 | Mental retardation, autosomal dominant 5 | | | | 108 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | | | | 21 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352582 | Familial infantile myoclonic epilepsy | | | | 271 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | TBP CL E G H | 6908 | 11588 | ORPHA:98759 | Spinocerebellar ataxia type 17 | | | | 7 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | | | | 140 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | TGM6 CL E G H | 343641 | 16255 | OMIM:613908 | Spinocerebellar ataxia 35 | | | | 58 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | TGM6 CL E G H | 343641 | 16255 | ORPHA:276193 | Spinocerebellar ataxia type 35 | | | | 58 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | THAP1 CL E G H | 55145 | 20856 | OMIM:602629 | Dystonia 6, torsion | | | | 42 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | THAP1 CL E G H | 55145 | 20856 | ORPHA:98806 | Primary dystonia, DYT6 type | HP:0040283 - Occasional | | | 42 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | | | | 15 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:128100 | Dystonia 1, torsion, autosomal dominant | | | | 47 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | TOR1A CL E G H | 1861 | 3098 | ORPHA:36899 | Myoclonus-dystonia syndrome | | | | 47 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:181405 | Scapuloperoneal spinal muscular atrophy | | | | 214 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | | | | 64 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | TUBB4A CL E G H | 10382 | 20774 | OMIM:128101 | Dystonia 4, torsion, autosomal dominant | | | | 66 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | TUBB4A CL E G H | 10382 | 20774 | ORPHA:98805 | Primary dystonia, DYT4 type | | | | 66 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | VAC14 CL E G H | 55697 | 25507 | OMIM:617054 | Striatonigral degeneration, childhood-onset | . | | | 6 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | VPS11 CL E G H | 55823 | 14583 | OMIM:619637 | DYSTONIA 32; DYT32 | | | | 1 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | VPS16 CL E G H | 64601 | 14584 | OMIM:619291 | DYSTONIA 30; DYT30 | | | | | | |
HP:0012179 | HP:0012179 | Craniofacial dystonia | 0 | ZNF142 CL E G H | 7701 | 12927 | OMIM:618425 | Neurodevelopmental disorder with impaired speech and hyperkinetic movements | | | | | | |
HP:0012179 | HP:0031007 | Orofacial action-specific dystonia induced by speech | 1 | CL E G H | | | | | | | | | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | AARS1 CL E G H | 16 | 20 | OMIM:616339 | Epileptic encephalopathy, early infantile, 29 | . | | | | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:97240 | Zebra body myopathy | HP:0040281 - Very frequent | | | 96 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 114 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 114 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | ANO3 CL E G H | 63982 | 14004 | ORPHA:420485 | Cranio-cervical dystonia with laryngeal and upper-limb involvement | HP:0040282 - Frequent | | | 17 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | ANO3 CL E G H | 63982 | 14004 | ORPHA:420485 | Cranio-cervical dystonia with laryngeal and upper-limb involvement | HP:0040283 - Occasional | | | 17 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | ANO3 CL E G H | 63982 | 14004 | ORPHA:420485 | Cranio-cervical dystonia with laryngeal and upper-limb involvement | HP:0040282 - Frequent | | | 17 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | ANO3 CL E G H | 63982 | 14004 | OMIM:615034 | Dystonia 24 | HP:0040283 - Occasional | | | 17 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | ANO3 CL E G H | 63982 | 14004 | OMIM:615034 | Dystonia 24 | . | | | 17 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | ANO3 CL E G H | 63982 | 14004 | OMIM:615034 | Dystonia 24 | HP:0040283 - Occasional | | | 17 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | ATN1 CL E G H | 1822 | 3033 | ORPHA:101 | Dentatorubral pallidoluysian atrophy | HP:0040283 - Occasional | | | 16 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | ATN1 CL E G H | 1822 | 3033 | ORPHA:101 | Dentatorubral pallidoluysian atrophy | HP:0040283 - Occasional | | | 16 | | |
HP:0012179 | HP:0031008 | Lingual dystonia | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | . | | | 100 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | ATP1A3 CL E G H | 478 | 801 | OMIM:128235 | Dystonia 12 | . | | | 150 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | ATP1A3 CL E G H | 478 | 801 | ORPHA:71517 | Rapid-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 150 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | . | | | 114 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:71518 | Benign paroxysmal torticollis of infancy | HP:0040281 - Very frequent | | | 449 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:97 | Familial paroxysmal ataxia | HP:0040283 - Occasional | | | 449 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:98758 | Spinocerebellar ataxia type 6 | HP:0040283 - Occasional | | | 449 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | . | | | 2 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | CEP85L CL E G H | 387119 | 21638 | OMIM:618873 | LISSENCEPHALY 10; LIS10 | | | | 1 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | CIZ1 CL E G H | 25792 | 16744 | ORPHA:420492 | Adult-onset cervical dystonia, DYT23 type | HP:0040282 - Frequent | | | 16 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | CNP CL E G H | 1267 | 2158 | OMIM:619071 | LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20 | | | | | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | COASY CL E G H | 80347 | 29932 | ORPHA:397725 | COASY protein-associated neurodegeneration | HP:0040281 - Very frequent | | | 16 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | . | | | 16 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 65 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | COL6A1 CL E G H | 1291 | 2211 | OMIM:158810 | Bethlem myopathy 1 | . | HP:0003577 - Congenital onset | | 442 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 442 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 442 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | COL6A2 CL E G H | 1292 | 2212 | OMIM:158810 | Bethlem myopathy 1 | . | HP:0003577 - Congenital onset | | 478 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 478 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 478 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | COL6A3 CL E G H | 1293 | 2213 | OMIM:158810 | Bethlem myopathy 1 | . | HP:0003577 - Congenital onset | | 702 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 702 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | COL6A3 CL E G H | 1293 | 2213 | OMIM:616411 | Dystonia 27 | . | | | 702 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | COL6A3 CL E G H | 1293 | 2213 | OMIM:616411 | Dystonia 27 | | | | 702 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:464440 | Primary dystonia, DYT27 type | HP:0040281 - Very frequent | | | 702 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 702 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | COLEC11 CL E G H | 78989 | 17213 | OMIM:265050 | 3mc syndrome 2 | . | | | 9 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | CP CL E G H | 1356 | 2295 | OMIM:604290 | ACERULOPLASMINEMIA | . | | | 115 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | HP:0040283 - Occasional | | | 115 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | CP CL E G H | 1356 | 2295 | OMIM:604290 | ACERULOPLASMINEMIA | . | | | 115 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | HP:0040283 - Occasional | | | 115 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:352582 | Familial infantile myoclonic epilepsy | HP:0040283 - Occasional | | | 1 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | | | | 43 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | | | | 43 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | DRD2 CL E G H | 1813 | 3023 | ORPHA:36899 | Myoclonus-dystonia syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | DRD5 CL E G H | 1816 | 3026 | OMIM:606798 | Blepharospasm, benign essential, susceptibility to | . | | | 3 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | FLI1 CL E G H | 2313 | 3749 | ORPHA:370348 | Peripheral primitive neuroectodermal tumor | HP:0040283 - Occasional | | | 8 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | FTL CL E G H | 2512 | 3999 | OMIM:606159 | Neurodegeneration with brain iron accumulation 3 | . | | | 33 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | HP:0040283 - Occasional | | | 33 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 105 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 105 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 86 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | GDAP2 CL E G H | 54834 | 18010 | OMIM:618369 | Spinocerebellar ataxia, autosomal recessive 27 | . | | | | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | GNAL CL E G H | 2774 | 4388 | ORPHA:329466 | Autosomal dominant focal dystonia, DYT25 type | HP:0040282 - Frequent | | | 13 | | |
HP:0012179 | HP:0031008 | Lingual dystonia | 1 | GNAL CL E G H | 2774 | 4388 | ORPHA:329466 | Autosomal dominant focal dystonia, DYT25 type | HP:0040282 - Frequent | | | 13 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | GNAL CL E G H | 2774 | 4388 | OMIM:615073 | Dystonia 25 | . | | | 13 | | |
HP:0012179 | HP:0031008 | Lingual dystonia | 1 | GNAL CL E G H | 2774 | 4388 | OMIM:615073 | Dystonia 25 | . | | | 13 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | HPCA CL E G H | 3208 | 5144 | OMIM:224500 | Dystonia 2, torsion, autosomal recessive | . | | | 4 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | HPCA CL E G H | 3208 | 5144 | OMIM:224500 | Dystonia 2, torsion, autosomal recessive | . | | | 4 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | HPCA CL E G H | 3208 | 5144 | ORPHA:99657 | Primary dystonia, DYT2 type | HP:0040282 - Frequent | | | 4 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | HPCA CL E G H | 3208 | 5144 | ORPHA:99657 | Primary dystonia, DYT2 type | HP:0040282 - Frequent | | | 4 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 1 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | ITGA7 CL E G H | 3679 | 6143 | OMIM:613204 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | | | | 127 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | HP:0040283 - Occasional | | | 17 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619724 | DYSTONIA 34, MYOCLONIC; DYT34 | | | | | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | KCTD17 CL E G H | 79734 | 25705 | OMIM:616398 | Dystonia 26, myoclonic | . | | | 1 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | KCTD17 CL E G H | 79734 | 25705 | OMIM:616398 | Dystonia 26, myoclonic | . | | | 1 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | KCTD17 CL E G H | 79734 | 25705 | ORPHA:36899 | Myoclonus-dystonia syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | KIF1C CL E G H | 10749 | 6317 | ORPHA:397946 | Autosomal spastic paraplegia type 58 | HP:0040284 - Very rare | | | 38 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | KMT2B CL E G H | 9757 | 15840 | ORPHA:589618 | Dystonia 28 | | | | 11 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | KMT2B CL E G H | 9757 | 15840 | ORPHA:589618 | Dystonia 28 | | | | 11 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | KMT2B CL E G H | 9757 | 15840 | OMIM:617284 | Dystonia 28, childhood-onset | . | | | 11 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | KMT2B CL E G H | 9757 | 15840 | OMIM:617284 | Dystonia 28, childhood-onset | . | | | 11 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | HP:0040284 - Very rare | | | 140 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | | | | 140 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | MECR CL E G H | 51102 | 19691 | OMIM:617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | | | | 6 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | MYF5 CL E G H | 4617 | 7565 | OMIM:618155 | Ophthalmoplegia, external, with rib and vertebral anomalies | . | | | | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | NAA10 CL E G H | 8260 | 18704 | ORPHA:276432 | Ogden syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | NAXE CL E G H | 128240 | 18453 | OMIM:617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | | | | 9 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | . | | | 9 | | |
HP:0012179 | HP:0031008 | Lingual dystonia | 1 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | NKX6-2 CL E G H | 84504 | 19321 | OMIM:617560 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | | | | 2 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 27 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216873 | Atypical pantothenate kinase-associated neurodegeneration | HP:0040283 - Occasional | | | 55 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | PARK7 CL E G H | 11315 | 16369 | OMIM:606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | | | | 23 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | PNKD CL E G H | 25953 | 9153 | ORPHA:98810 | Paroxysmal non-kinesigenic dyskinesia | HP:0040283 - Occasional | | | 66 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | PNKD CL E G H | 25953 | 9153 | OMIM:118800 | Paroxysmal nonkinesigenic dyskinesia 1 | . | | | 66 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | PRDX3 CL E G H | 10935 | 9354 | OMIM:619862 | | | | | | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | PRKRA CL E G H | 8575 | 9438 | OMIM:612067 | Dystonia 16 | | | | 37 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | PRKRA CL E G H | 8575 | 9438 | ORPHA:210571 | Dystonia 16 | HP:0040282 - Frequent | | | 37 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:98810 | Paroxysmal non-kinesigenic dyskinesia | HP:0040283 - Occasional | | | 94 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | RNF170 CL E G H | 81790 | 25358 | OMIM:619686 | SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85 | | | | 3 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | ROBO3 CL E G H | 64221 | 13433 | OMIM:607313 | Gaze palsy, familial horizontal, with progressive scoliosis, 1 | | | | 90 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | SCP2 CL E G H | 6342 | 10606 | OMIM:613724 | Leukoencephalopathy with dystonia and motor neuropathy | . | | | 4 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | SGCE CL E G H | 8910 | 10808 | OMIM:159900 | Dystonia 11, myoclonic | . | | | 49 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | SGCE CL E G H | 8910 | 10808 | ORPHA:36899 | Myoclonus-dystonia syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 6 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 6 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | SLC39A14 CL E G H | 23516 | 20858 | ORPHA:521406 | Dystonia-parkinsonism-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | . | | | 5 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | SLC6A3 CL E G H | 6531 | 11049 | OMIM:613135 | Parkinsonism-Dystonia, infantile, 1 | | | | 13 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 287 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 287 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 54 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 54 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | STARD7 CL E G H | 56910 | 18063 | OMIM:607876 | Epilepsy, familial adult myoclonic, 2 | . | | | | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | SYNGAP1 CL E G H | 8831 | 11497 | OMIM:612621 | Mental retardation, autosomal dominant 5 | HP:0040283 - Occasional | | | 108 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | HP:0040282 - Frequent | | | 21 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352582 | Familial infantile myoclonic epilepsy | HP:0040283 - Occasional | | | 271 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | TBP CL E G H | 6908 | 11588 | ORPHA:98759 | Spinocerebellar ataxia type 17 | HP:0040282 - Frequent | | | 7 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | TBP CL E G H | 6908 | 11588 | ORPHA:98759 | Spinocerebellar ataxia type 17 | HP:0040282 - Frequent | | | 7 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | TGM6 CL E G H | 343641 | 16255 | OMIM:613908 | Spinocerebellar ataxia 35 | . | | | 58 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | TGM6 CL E G H | 343641 | 16255 | ORPHA:276193 | Spinocerebellar ataxia type 35 | HP:0040283 - Occasional | | | 58 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | THAP1 CL E G H | 55145 | 20856 | OMIM:602629 | Dystonia 6, torsion | . | | | 42 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | THAP1 CL E G H | 55145 | 20856 | OMIM:602629 | Dystonia 6, torsion | . | | | 42 | | |
HP:0012179 | HP:0031008 | Lingual dystonia | 1 | THAP1 CL E G H | 55145 | 20856 | OMIM:602629 | Dystonia 6, torsion | . | | | 42 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | THAP1 CL E G H | 55145 | 20856 | ORPHA:98806 | Primary dystonia, DYT6 type | HP:0040283 - Occasional | | | 42 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | THAP1 CL E G H | 55145 | 20856 | ORPHA:98806 | Primary dystonia, DYT6 type | HP:0040283 - Occasional | | | 42 | | |
HP:0012179 | HP:0031008 | Lingual dystonia | 1 | THAP1 CL E G H | 55145 | 20856 | ORPHA:98806 | Primary dystonia, DYT6 type | HP:0040283 - Occasional | | | 42 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | TOR1A CL E G H | 1861 | 3098 | OMIM:128100 | Dystonia 1, torsion, autosomal dominant | . | | | 47 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | TOR1A CL E G H | 1861 | 3098 | OMIM:128100 | Dystonia 1, torsion, autosomal dominant | . | | | 47 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | TOR1A CL E G H | 1861 | 3098 | OMIM:128100 | Dystonia 1, torsion, autosomal dominant | | | | 47 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | TOR1A CL E G H | 1861 | 3098 | ORPHA:36899 | Myoclonus-dystonia syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:181405 | Scapuloperoneal spinal muscular atrophy | . | | | 214 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040283 - Occasional | | | 64 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | TUBB4A CL E G H | 10382 | 20774 | OMIM:128101 | Dystonia 4, torsion, autosomal dominant | . | | | 66 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | TUBB4A CL E G H | 10382 | 20774 | ORPHA:98805 | Primary dystonia, DYT4 type | HP:0040283 - Occasional | | | 66 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | TUBB4A CL E G H | 10382 | 20774 | ORPHA:98805 | Primary dystonia, DYT4 type | HP:0040282 - Frequent | | | 66 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | VPS11 CL E G H | 55823 | 14583 | OMIM:619637 | DYSTONIA 32; DYT32 | | | | 1 | | |
HP:0012179 | HP:0031008 | Lingual dystonia | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0012179 | HP:0000643 | Blepharospasm | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | VPS16 CL E G H | 64601 | 14584 | OMIM:619291 | DYSTONIA 30; DYT30 | | | | | | |
HP:0012179 | HP:0012048 | Oromandibular dystonia | 1 | VPS16 CL E G H | 64601 | 14584 | OMIM:619291 | DYSTONIA 30; DYT30 | | | | | | |
HP:0012179 | HP:0000473 | Torticollis | 1 | ZNF142 CL E G H | 7701 | 12927 | OMIM:618425 | Neurodevelopmental disorder with impaired speech and hyperkinetic movements | . | | | | | |
HP:0012179 | HP:0002544 | Retrocollis | 2 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0012179 | HP:0002544 | Retrocollis | 2 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 114 | | |
HP:0012179 | HP:0002544 | Retrocollis | 2 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 105 | | |
HP:0012179 | HP:0002544 | Retrocollis | 2 | KMT2B CL E G H | 9757 | 15840 | OMIM:617284 | Dystonia 28, childhood-onset | . | | | 11 | | |
HP:0012179 | HP:0002544 | Retrocollis | 2 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | . | | | 140 | | |
HP:0012179 | HP:0002544 | Retrocollis | 2 | PRKRA CL E G H | 8575 | 9438 | OMIM:612067 | Dystonia 16 | . | | | 37 | | |
HP:0012179 | HP:0002544 | Retrocollis | 2 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 6 | | |
HP:0012179 | HP:0002544 | Retrocollis | 2 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 287 | | |
HP:0012179 | HP:0002544 | Retrocollis | 2 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 54 | | |