Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002374 | HP:0002374 | Diminished movement | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171433 | Intermediate nemaline myopathy | | | | 96 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 96 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | | | | 96 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | | | | 60 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | | | | 60 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | ALG11 CL E G H | 440138 | 32456 | ORPHA:280071 | ALG11-CDG | | | | 41 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | | | | 35 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 74 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 88 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 68 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | CLTC CL E G H | 1213 | 2092 | OMIM:617854 | Mental retardation, autosomal dominant 56 | | | | 1 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | CNTN1 CL E G H | 1272 | 2171 | OMIM:612540 | Myopathy, congenital, compton-north | | | | 40 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | | | | 115 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | | | | 86 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | | | | 43 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:391411 | Atypical juvenile parkinsonism | | | | 6 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 91 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | | | | 38 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | DPM2 CL E G H | 8818 | 3006 | OMIM:615042 | Congenital disorder of glycosylation, type Iu | | | | 26 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:607598 | Lethal congenital contracture syndrome 2 | | | | 12 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | FGF14 CL E G H | 2259 | 3671 | ORPHA:98764 | Spinocerebellar ataxia type 27 | | | | 47 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | FLVCR2 CL E G H | 55640 | 20105 | OMIM:225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | | | | 47 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | FRRS1L CL E G H | 23732 | 1362 | OMIM:616981 | Epileptic encephalopathy, early infantile, 37 | | | | 4 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618822 | MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF | | | | | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 8 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | GLRA1 CL E G H | 2741 | 4326 | OMIM:149400 | Hyperekplexia 1 | | | | 63 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | GPHN CL E G H | 10243 | 15465 | OMIM:149400 | Hyperekplexia 1 | | | | 18 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | | | | 12 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | KLHL40 CL E G H | 131377 | 30372 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 28 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171433 | Intermediate nemaline myopathy | | | | 13 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 13 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | | | | 13 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | | | | 411 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | LAMP2 CL E G H | 3920 | 6501 | OMIM:300257 | Danon disease | | | | 211 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | LGI3 CL E G H | 203190 | 18711 | OMIM:620007 | | | | | | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 11 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | | | | 11 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 221 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | | | | 140 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | | | | 140 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | | | | 140 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:618184 | Neuropathy, congenital hypomyelinating, 2 | | | | 134 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | MRPS16 CL E G H | 51021 | 14048 | OMIM:610498 | Combined oxidative phosphorylation deficiency 2 | | | | 60 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | | | | 185 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 72 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | NEB CL E G H | 4703 | 7720 | OMIM:619334 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6 | | | | 745 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171433 | Intermediate nemaline myopathy | | | | 745 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 745 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | | | | 745 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:619911 | | | | | 27 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | PAM16 CL E G H | 51025 | 29679 | OMIM:613320 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | | | | 1 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | | | | 55 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | PDE8B CL E G H | 8622 | 8794 | OMIM:609161 | Striatal degeneration, autosomal dominant | | | | 75 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | PET117 CL E G H | 100303755 | 40045 | OMIM:619063 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19 | | | | | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:391411 | Atypical juvenile parkinsonism | | | | 6 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 464 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 45 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | PPP2R2B CL E G H | 5521 | 9305 | ORPHA:98762 | Spinocerebellar ataxia type 12 | | | | 5 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | | | | 69 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 73 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 125 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 2 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 68 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | | | | 1 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | | | | 47 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | SLC6A3 CL E G H | 6531 | 11049 | ORPHA:238455 | Infantile dystonia-parkinsonism | | | | 13 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 65 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:168601 | Parkinson disease 1, autosomal dominant | | | | 65 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:391411 | Atypical juvenile parkinsonism | | | | 9 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | | | | 80 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | TH CL E G H | 7054 | 11782 | OMIM:605407 | Segawa syndrome, autosomal recessive | | | | 80 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | TMEM240 CL E G H | 339453 | 25186 | ORPHA:98773 | Spinocerebellar ataxia type 21 | | | | 9 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | | | | 54 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171433 | Intermediate nemaline myopathy | | | | 108 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | | | | 2 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 106 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 113 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | VPS13C CL E G H | 54832 | 23594 | OMIM:616840 | Parkinson disease 23, autosomal recessive early-onset | | | | 8 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 37 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | VPS35 CL E G H | 55737 | 13487 | OMIM:614203 | Parkinson disease 17 | | | | 37 | | |
HP:0002374 | HP:0002374 | Diminished movement | 0 | WWOX CL E G H | 51741 | 12799 | OMIM:616211 | Epileptic encephalopathy, early infantile, 28 | | | | 149 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | . | | | 60 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | HP:0040282 - Frequent | | | 60 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | ALG11 CL E G H | 440138 | 32456 | ORPHA:280071 | ALG11-CDG | HP:0040283 - Occasional | | | 41 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | . | | | 100 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 35 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 74 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | CHRND CL E G H | 1144 | 1965 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 88 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | CHRNG CL E G H | 1146 | 1967 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 68 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | CLTC CL E G H | 1213 | 2092 | OMIM:617854 | Mental retardation, autosomal dominant 56 | | | | 1 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | CNTN1 CL E G H | 1272 | 2171 | OMIM:612540 | Myopathy, congenital, compton-north | . | | | 40 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | HP:0040283 - Occasional | | | 115 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | | | | 86 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 2 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040282 - Frequent | | | 6 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 91 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 91 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040284 - Very rare | | | 38 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | DPM2 CL E G H | 8818 | 3006 | OMIM:615042 | Congenital disorder of glycosylation, type Iu | . | | | 26 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 2 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | ERBB3 CL E G H | 2065 | 3431 | OMIM:607598 | Lethal congenital contracture syndrome 2 | . | | | 12 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | FGF14 CL E G H | 2259 | 3671 | ORPHA:98764 | Spinocerebellar ataxia type 27 | HP:0040284 - Very rare | | | 47 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | FLVCR2 CL E G H | 55640 | 20105 | OMIM:225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | . | | | 47 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | FRRS1L CL E G H | 23732 | 1362 | OMIM:616981 | Epileptic encephalopathy, early infantile, 37 | | | | 4 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | FXR1 CL E G H | 8087 | 4023 | OMIM:618822 | MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF | | | | | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 8 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | GLRA1 CL E G H | 2741 | 4326 | OMIM:149400 | Hyperekplexia 1 | . | | | 63 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | GPHN CL E G H | 10243 | 15465 | OMIM:149400 | Hyperekplexia 1 | . | | | 18 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 12 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | KLHL40 CL E G H | 131377 | 30372 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040282 - Frequent | | | 28 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | HP:0040281 - Very frequent | | | 411 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | LAMP2 CL E G H | 3920 | 6501 | OMIM:300257 | Danon disease | . | | | 211 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | LGI3 CL E G H | 203190 | 18711 | OMIM:620007 | | | | | | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040282 - Frequent | | | 11 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 221 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | HP:0040280 - Obligate | | | 140 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | . | | | 140 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:618184 | Neuropathy, congenital hypomyelinating, 2 | . | | | 134 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | MRPS16 CL E G H | 51021 | 14048 | OMIM:610498 | Combined oxidative phosphorylation deficiency 2 | . | | | 60 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | . | | | 185 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 72 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 72 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | NEB CL E G H | 4703 | 7720 | OMIM:619334 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6 | | | | 745 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | NR4A2 CL E G H | 4929 | 7981 | OMIM:619911 | | | | | 27 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | PAM16 CL E G H | 51025 | 29679 | OMIM:613320 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | . | | | 1 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | PDE8B CL E G H | 8622 | 8794 | OMIM:609161 | Striatal degeneration, autosomal dominant | . | | | 75 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | PET117 CL E G H | 100303755 | 40045 | OMIM:619063 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19 | | | | | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | PODXL CL E G H | 5420 | 9171 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040282 - Frequent | | | 6 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 45 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | PPP2R2B CL E G H | 5521 | 9305 | ORPHA:98762 | Spinocerebellar ataxia type 12 | HP:0040283 - Occasional | | | 5 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | HP:0040283 - Occasional | | | 69 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 73 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 73 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 125 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 2 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 2 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 68 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 1 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | . | | | 47 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | SLC6A3 CL E G H | 6531 | 11049 | ORPHA:238455 | Infantile dystonia-parkinsonism | HP:0040282 - Frequent | | | 13 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 65 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | SNCA CL E G H | 6622 | 11138 | OMIM:168601 | Parkinson disease 1, autosomal dominant | . | | | 65 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040282 - Frequent | | | 9 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 80 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | TH CL E G H | 7054 | 11782 | OMIM:605407 | Segawa syndrome, autosomal recessive | . | | | 80 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | . | | | 9 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | TMEM240 CL E G H | 339453 | 25186 | ORPHA:98773 | Spinocerebellar ataxia type 21 | HP:0040282 - Frequent | | | 9 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 2 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 106 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 106 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 113 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | VPS13C CL E G H | 54832 | 23594 | OMIM:616840 | Parkinson disease 23, autosomal recessive early-onset | . | | | 8 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 37 | | |
HP:0002374 | HP:0002304 | Akinesia | 1 | VPS35 CL E G H | 55737 | 13487 | OMIM:614203 | Parkinson disease 17 | . | | | 37 | | |
HP:0002374 | HP:0002375 | Hypokinesia | 1 | WWOX CL E G H | 51741 | 12799 | OMIM:616211 | Epileptic encephalopathy, early infantile, 28 | . | | | 149 | | |
HP:0002374 | HP:0033414 | Lower extremity hypokinesia | 2 | CL E G H | | | | | | | | | | |
HP:0002374 | HP:0033413 | Upper extremity hypokinesia | 2 | CL E G H | | | | | | | | | | |
HP:0002374 | HP:0033412 | Upper extremity akinesia | 2 | CL E G H | | | | | | | | | | |
HP:0002374 | HP:0033411 | Lower extremity akinesia | 2 | CL E G H | | | | | | | | | | |