Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormal central motor function (HP:0011442)help
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Rigidity (HP:0002063)help
Term ID: 2063
Name: Rigidity
Synonym: Muscle rigidity; Rigidity
Definition: Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
Comments:
Reference: HP:0002063
Genes and Diseases:
 
       Child Nodes:
........expandCogwheel rigidity (HP:0002396) help
........expandExtrapyramidal muscular rigidity (HP:0007076) help
................... HP:0007158 Progressive extrapyramidal muscular rigidity
........expandDecorticate rigidity (HP:0011444) help
........expandDecerebrate rigidity (HP:0025013) help

 Sister Nodes: 
..expandAbnormality of central motor conduction (HP:0012079) help
..expandAbnormality of coordination (HP:0011443) help
..expandAbnormality of extrapyramidal motor function (HP:0002071) help
..expandApraxia (HP:0002186) help
..expandCerebral palsy (HP:0100021) help
..expandobsolete Central hypotonia (HP:0011398) help
..expandParalysis (HP:0003470) help
..expandTorticollis (HP:0000473) help
..expandUpper motor neuron dysfunction (HP:0002493) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002063HP:0002063Rigidity0AARS1 CL E G H1620OMIM:619661LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0002063HP:0002063Rigidity0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002063HP:0002063Rigidity0ABCA12 CL E G H2615414637OMIM:242500Ichthyosis, congenital, autosomal recessive 4B.130
HP:0002063HP:0002063Rigidity0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3HP:0040283 - Occasional96
HP:0002063HP:0002063Rigidity0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0002063HP:0002063Rigidity0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0002063HP:0002063Rigidity0ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6.116
HP:0002063HP:0002063Rigidity0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional116
HP:0002063HP:0002063Rigidity0ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset.4
HP:0002063HP:0002063Rigidity0AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 28HP:0040284 - Very rare86
HP:0002063HP:0002063Rigidity0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0002063HP:0002063Rigidity0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0002063HP:0002063Rigidity0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0002063HP:0002063Rigidity0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile form253
HP:0002063HP:0002063Rigidity0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0002063HP:0002063Rigidity0ARX CL E G H17030218060ORPHA:3175X-linked spasticity-intellectual disability-epilepsy syndromeHP:0040281 - Very frequent166
HP:0002063HP:0002063Rigidity0ASPA CL E G H443756ORPHA:314911Severe Canavan disease48
HP:0002063HP:0002063Rigidity0ATAD1 CL E G H8489625903ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent
HP:0002063HP:0002063Rigidity0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 3HP:0040284 - Very rare71
HP:0002063HP:0002063Rigidity0ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosisHP:0040281 - Very frequent100
HP:0002063HP:0002063Rigidity0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0002063HP:0002063Rigidity0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040281 - Very frequent100
HP:0002063HP:0002063Rigidity0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0002063HP:0002063Rigidity0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0002063HP:0002063Rigidity0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0002063HP:0002063Rigidity0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0002063HP:0002063Rigidity0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional
HP:0002063HP:0002063Rigidity0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0002063HP:0002063Rigidity0ATP6AP2 CL E G H1015918305OMIM:300911Parkinsonism with spasticity, X-linked36
HP:0002063HP:0002063Rigidity0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera type36
HP:0002063HP:0002063Rigidity0ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndrome36
HP:0002063HP:0002063Rigidity0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0002063HP:0002063Rigidity0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0002063HP:0002063Rigidity0ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset.11
HP:0002063HP:0002063Rigidity0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0002063HP:0002063Rigidity0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0002063HP:0002063Rigidity0ATXN8 CL E G H72406632925ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0002063HP:0002063Rigidity0ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset.1
HP:0002063HP:0002063Rigidity0ATXN8OS CL E G H631510561ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0002063HP:0002063Rigidity0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal.20
HP:0002063HP:0002063Rigidity0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegenerationHP:0040281 - Very frequent114
HP:0002063HP:0002063Rigidity0C9ORF72 CL E G H20322828337ORPHA:401901Huntington disease-like syndrome due to C9ORF72 expansionsHP:0040282 - Frequent56
HP:0002063HP:0002063Rigidity0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0002063HP:0002063Rigidity0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0002063HP:0002063Rigidity0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0002063HP:0002063Rigidity0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0002063HP:0002063Rigidity0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040283 - Occasional118
HP:0002063HP:0002063Rigidity0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002063HP:0002063Rigidity0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002063HP:0002063Rigidity0CHKA CL E G H11191937OMIM:620023
HP:0002063HP:0002063Rigidity0CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 7.42
HP:0002063HP:0002063Rigidity0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0002063HP:0002063Rigidity0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0002063HP:0002063Rigidity0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0002063HP:0002063Rigidity0COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 6.16
HP:0002063HP:0002063Rigidity0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0002063HP:0002063Rigidity0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040283 - Occasional54
HP:0002063HP:0002063Rigidity0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0002063HP:0002063Rigidity0CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA115
HP:0002063HP:0002063Rigidity0CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040283 - Occasional115
HP:0002063HP:0002063Rigidity0CRYAB CL E G H14102389OMIM:613869Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related.46
HP:0002063HP:0002063Rigidity0CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis.149
HP:0002063HP:0002063Rigidity0CSF1R CL E G H14362433OMIM:221820Leukoencephalopathy, diffuse hereditary, with spheroids.149
HP:0002063HP:0002063Rigidity0CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10.159
HP:0002063HP:0002063Rigidity0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0002063HP:0002063Rigidity0DAB1 CL E G H16002661ORPHA:363710Spinocerebellar ataxia type 374
HP:0002063HP:0002063Rigidity0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002063HP:0002063Rigidity0DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0002063HP:0002063Rigidity0DDHD1 CL E G H8082119714ORPHA:101008Autosomal recessive spastic paraplegia type 28HP:0040282 - Frequent35
HP:0002063HP:0002063Rigidity0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0002063HP:0002063Rigidity0DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040281 - Very frequent72
HP:0002063HP:0002063Rigidity0DHDDS CL E G H7994720603OMIM:617836Developmental delay and seizures with or without movement abnormalities.47
HP:0002063HP:0002063Rigidity0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0002063HP:0002063Rigidity0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0002063HP:0002063Rigidity0DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonismHP:0040281 - Very frequent6
HP:0002063HP:0002063Rigidity0DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset.6
HP:0002063HP:0002063Rigidity0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040281 - Very frequent6
HP:0002063HP:0002063Rigidity0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0002063HP:0002063Rigidity0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0002063HP:0002063Rigidity0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002063HP:0002063Rigidity0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0002063HP:0002063Rigidity0EIF4G1 CL E G H19813296OMIM:614251Parkinson disease 18.2
HP:0002063HP:0002063Rigidity0FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset.36
HP:0002063HP:0002063Rigidity0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent36
HP:0002063HP:0002063Rigidity0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0002063HP:0002063Rigidity0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0002063HP:0002063Rigidity0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent172
HP:0002063HP:0002063Rigidity0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040282 - Frequent30
HP:0002063HP:0002063Rigidity0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 19.61
HP:0002063HP:0002063Rigidity0FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 37.4
HP:0002063HP:0002063Rigidity0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0002063HP:0002063Rigidity0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002063HP:0002063Rigidity0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0002063HP:0002063Rigidity0GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040282 - Frequent134
HP:0002063HP:0002063Rigidity0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0002063HP:0002063Rigidity0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002063HP:0002063Rigidity0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0002063HP:0002063Rigidity0GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040282 - Frequent139
HP:0002063HP:0002063Rigidity0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0002063HP:0002063Rigidity0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0002063HP:0002063Rigidity0GALC CL E G H25814115OMIM:245200Krabbe disease160
HP:0002063HP:0002063Rigidity0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 291
HP:0002063HP:0002063Rigidity0GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II.
HP:0002063HP:0002063Rigidity0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional
HP:0002063HP:0002063Rigidity0GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset.
HP:0002063HP:0002063Rigidity0GCDH CL E G H26394189OMIM:231670Glutaric acidemia I.115
HP:0002063HP:0002063Rigidity0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040283 - Occasional115
HP:0002063HP:0002063Rigidity0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent86
HP:0002063HP:0002063Rigidity0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0002063HP:0002063Rigidity0GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B.86
HP:0002063HP:0002063Rigidity0GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0002063HP:0002063Rigidity0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0002063HP:0002063Rigidity0GIGYF2 CL E G H2605811960OMIM:607688PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK118
HP:0002063HP:0002063Rigidity0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0002063HP:0002063Rigidity0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1120
HP:0002063HP:0002063Rigidity0GLRA1 CL E G H27414326ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent63
HP:0002063HP:0002063Rigidity0GLRB CL E G H27434329ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent46
HP:0002063HP:0002063Rigidity0GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset.1
HP:0002063HP:0002063Rigidity0GPHN CL E G H1024315465ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent18
HP:0002063HP:0002063Rigidity0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0002063HP:0002063Rigidity0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0002063HP:0002063Rigidity0HLA-DQB1 CL E G H31194944OMIM:123400Creutzfeldt-Jakob disease
HP:0002063HP:0002063Rigidity0HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).34
HP:0002063HP:0002063Rigidity0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0002063HP:0002063Rigidity0HTRA2 CL E G H2742914348OMIM:610297PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK1339
HP:0002063HP:0002063Rigidity0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040281 - Very frequent39
HP:0002063HP:0002063Rigidity0HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040283 - Occasional12
HP:0002063HP:0002063Rigidity0HTT CL E G H30644851OMIM:143100Huntington diseaseHP:0040283 - Occasional12
HP:0002063HP:0002063Rigidity0HTT CL E G H30644851ORPHA:248111Juvenile Huntington diseaseHP:0040282 - Frequent12
HP:0002063HP:0002063Rigidity0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0002063HP:0002063Rigidity0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent1
HP:0002063HP:0002063Rigidity0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndromeHP:0040282 - Frequent7
HP:0002063HP:0002063Rigidity0ITM2B CL E G H94456174OMIM:176500Cerebral amyloid angiopathy, itm2b-related, 1.3
HP:0002063HP:0002063Rigidity0JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0002063HP:0002063Rigidity0JPH3 CL E G H5733814203OMIM:606438Huntington disease-like 2.2
HP:0002063HP:0002063Rigidity0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0002063HP:0002063Rigidity0KCNA4 CL E G H37396222OMIM:618284Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
HP:0002063HP:0002063Rigidity0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0002063HP:0002063Rigidity0KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 1935
HP:0002063HP:0002063Rigidity0KCND3 CL E G H37526239ORPHA:98772Spinocerebellar ataxia type 19/2235
HP:0002063HP:0002063Rigidity0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002063HP:0002063Rigidity0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0002063HP:0002063Rigidity0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent196
HP:0002063HP:0002063Rigidity0LDHA CL E G H39396535OMIM:612933Glycogen storage disease XI.35
HP:0002063HP:0002063Rigidity0LNPK CL E G H8085621610OMIM:618090Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum.
HP:0002063HP:0002063Rigidity0LOXL1 CL E G H40166665OMIM:177650Exfoliation syndrome.3
HP:0002063HP:0002063Rigidity0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0002063HP:0002063Rigidity0LRRK2 CL E G H12089218618OMIM:607060Parkinson disease 8, autosomal dominant.221
HP:0002063HP:0002063Rigidity0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040281 - Very frequent221
HP:0002063HP:0002063Rigidity0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0002063HP:0002063Rigidity0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndrome140
HP:0002063HP:0002063Rigidity0MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset.140
HP:0002063HP:0002063Rigidity0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040282 - Frequent140
HP:0002063HP:0002063Rigidity0MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndromeHP:0040282 - Frequent140
HP:0002063HP:0002063Rigidity0MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndrome140
HP:0002063HP:0002063Rigidity0MAPT CL E G H41376893OMIM:260540Supranuclear palsy, progressive atypical.140
HP:0002063HP:0002063Rigidity0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140
HP:0002063HP:0002063Rigidity0MECP2 CL E G H42046990OMIM:300673Encephalopathy, neonatal severe, due to mecp2 mutations.950
HP:0002063HP:0002063Rigidity0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type.950
HP:0002063HP:0002063Rigidity0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0002063HP:0002063Rigidity0MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signs14
HP:0002063HP:0002063Rigidity0MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0002063HP:0002063Rigidity0MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 4318
HP:0002063HP:0002063Rigidity0MYO5A CL E G H46447602ORPHA:33445Neuroectodermal melanolysosomal diseaseHP:0040283 - Occasional35
HP:0002063HP:0002063Rigidity0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0002063HP:0002063Rigidity0NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 17.39
HP:0002063HP:0002063Rigidity0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0002063HP:0002063Rigidity0NOTCH2NLC CL E G H10099671753924OMIM:603472NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0002063HP:0002063Rigidity0NR4A2 CL E G H49297981OMIM:61991127
HP:0002063HP:0002063Rigidity0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent27
HP:0002063HP:0002063Rigidity0NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset.27
HP:0002063HP:0002063Rigidity0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional8
HP:0002063HP:0002063Rigidity0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional7
HP:0002063HP:0002063Rigidity0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0002063HP:0002063Rigidity0OGDH CL E G H49678124OMIM:203740Alpha-Ketoglutarate dehydrogenase deficiency
HP:0002063HP:0002063Rigidity0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataract163
HP:0002063HP:0002063Rigidity0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0002063HP:0002063Rigidity0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0002063HP:0002063Rigidity0PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0002063HP:0002063Rigidity0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson diseaseHP:0040281 - Very frequent23
HP:0002063HP:0002063Rigidity0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional14
HP:0002063HP:0002063Rigidity0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040282 - Frequent225
HP:0002063HP:0002063Rigidity0PDE8B CL E G H86228794ORPHA:228169Autosomal dominant striatal neurodegenerationHP:0040281 - Very frequent75
HP:0002063HP:0002063Rigidity0PDE8B CL E G H86228794OMIM:609161Striatal degeneration, autosomal dominant.75
HP:0002063HP:0002063Rigidity0PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 1.9
HP:0002063HP:0002063Rigidity0PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 1.28
HP:0002063HP:0002063Rigidity0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0002063HP:0002063Rigidity0PINK1 CL E G H6501814581OMIM:605909Parkinson disease 6, autosomal recessive early-onset.55
HP:0002063HP:0002063Rigidity0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson diseaseHP:0040281 - Very frequent55
HP:0002063HP:0002063Rigidity0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0002063HP:0002063Rigidity0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive.133
HP:0002063HP:0002063Rigidity0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies.3
HP:0002063HP:0002063Rigidity0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0002063HP:0002063Rigidity0PNKD CL E G H259539153ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040283 - Occasional66
HP:0002063HP:0002063Rigidity0PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonismHP:0040281 - Very frequent6
HP:0002063HP:0002063Rigidity0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson diseaseHP:0040281 - Very frequent6
HP:0002063HP:0002063Rigidity0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0002063HP:0002063Rigidity0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegia464
HP:0002063HP:0002063Rigidity0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0002063HP:0002063Rigidity0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0002063HP:0002063Rigidity0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0002063HP:0002063Rigidity0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0002063HP:0002063Rigidity0PRKCG CL E G H55829402ORPHA:98763Spinocerebellar ataxia type 14HP:0040283 - Occasional83
HP:0002063HP:0002063Rigidity0PRKN CL E G H50718607OMIM:600116Parkinson disease, juvenile, type 2138
HP:0002063HP:0002063Rigidity0PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson diseaseHP:0040281 - Very frequent138
HP:0002063HP:0002063Rigidity0PRNP CL E G H56219449OMIM:123400Creutzfeldt-Jakob disease69
HP:0002063HP:0002063Rigidity0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0002063HP:0002063Rigidity0PRNP CL E G H56219449OMIM:603218Huntington disease-like 1.69
HP:0002063HP:0002063Rigidity0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob disease69
HP:0002063HP:0002063Rigidity0PRRT2 CL E G H11247630500ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040283 - Occasional94
HP:0002063HP:0002063Rigidity0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0002063HP:0002063Rigidity0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0002063HP:0002063Rigidity0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile form81
HP:0002063HP:0002063Rigidity0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile form81
HP:0002063HP:0002063Rigidity0PSAP CL E G H56609498OMIM:619491PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK2481
HP:0002063HP:0002063Rigidity0PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0002063HP:0002063Rigidity0PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0002063HP:0002063Rigidity0PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0002063HP:0002063Rigidity0RAB39B CL E G H11644216499ORPHA:2379Early-onset parkinsonism-intellectual disability syndromeHP:0040281 - Very frequent34
HP:0002063HP:0002063Rigidity0RAB39B CL E G H11644216499OMIM:311510Waisman syndrome34
HP:0002063HP:0002063Rigidity0RANBP2 CL E G H59039848ORPHA:88619Familial acute necrotizing encephalopathyHP:0040282 - Frequent57
HP:0002063HP:0002063Rigidity0REEP2 CL E G H5130817975ORPHA:401849Autosomal spastic paraplegia type 72HP:0040281 - Very frequent3
HP:0002063HP:0002063Rigidity0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0002063HP:0002063Rigidity0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0002063HP:0002063Rigidity0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0002063HP:0002063Rigidity0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040281 - Very frequent15
HP:0002063HP:0002063Rigidity0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0002063HP:0002063Rigidity0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0002063HP:0002063Rigidity0RYR1 CL E G H626110483OMIM:145600Malignant hyperthermia, susceptibility to, 11200
HP:0002063HP:0002063Rigidity0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0002063HP:0002063Rigidity0SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040282 - Frequent1053
HP:0002063HP:0002063Rigidity0SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040282 - Frequent126
HP:0002063HP:0002063Rigidity0SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040282 - Frequent427
HP:0002063HP:0002063Rigidity0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional70
HP:0002063HP:0002063Rigidity0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional357
HP:0002063HP:0002063Rigidity0SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040282 - Frequent318
HP:0002063HP:0002063Rigidity0SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0002063HP:0002063Rigidity0SIL1 CL E G H6437424624ORPHA:559Marinesco-Sjögren syndromeHP:0040282 - Frequent67
HP:0002063HP:0002063Rigidity0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional73
HP:0002063HP:0002063Rigidity0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2).110
HP:0002063HP:0002063Rigidity0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0002063HP:0002063Rigidity0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0002063HP:0002063Rigidity0SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 1.70
HP:0002063HP:0002063Rigidity0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0002063HP:0002063Rigidity0SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040283 - Occasional1
HP:0002063HP:0002063Rigidity0SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeHP:0040282 - Frequent42
HP:0002063HP:0002063Rigidity0SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 1.42
HP:0002063HP:0002063Rigidity0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002063HP:0002063Rigidity0SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 1.13
HP:0002063HP:0002063Rigidity0SLC6A5 CL E G H915211051ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent81
HP:0002063HP:0002063Rigidity0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A.164
HP:0002063HP:0002063Rigidity0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0002063HP:0002063Rigidity0SNCA CL E G H662211138OMIM:168601Parkinson disease 1, autosomal dominant.65
HP:0002063HP:0002063Rigidity0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent65
HP:0002063HP:0002063Rigidity0SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson diseaseHP:0040281 - Very frequent65
HP:0002063HP:0002063Rigidity0SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset.35
HP:0002063HP:0002063Rigidity0SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiencyHP:0040282 - Frequent28
HP:0002063HP:0002063Rigidity0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040283 - Occasional14
HP:0002063HP:0002063Rigidity0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional108
HP:0002063HP:0002063Rigidity0SYNJ1 CL E G H886711503ORPHA:391411Atypical juvenile parkinsonismHP:0040281 - Very frequent9
HP:0002063HP:0002063Rigidity0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional9
HP:0002063HP:0002063Rigidity0SYNJ1 CL E G H886711503OMIM:615530Parkinson disease 20, early-onset.9
HP:0002063HP:0002063Rigidity0SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson diseaseHP:0040281 - Very frequent9
HP:0002063HP:0002063Rigidity0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional123
HP:0002063HP:0002063Rigidity0TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonism21
HP:0002063HP:0002063Rigidity0TBP CL E G H690811588OMIM:168600Parkinson disease, late-onset.7
HP:0002063HP:0002063Rigidity0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0002063HP:0002063Rigidity0TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 17HP:0040282 - Frequent7
HP:0002063HP:0002063Rigidity0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0002063HP:0002063Rigidity0TH CL E G H705411782OMIM:605407Segawa syndrome, autosomal recessive.80
HP:0002063HP:0002063Rigidity0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegia103
HP:0002063HP:0002063Rigidity0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0002063HP:0002063Rigidity0TMEM240 CL E G H33945325186ORPHA:98773Spinocerebellar ataxia type 21HP:0040282 - Frequent9
HP:0002063HP:0002063Rigidity0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002063HP:0002063Rigidity0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0002063HP:0002063Rigidity0TRNT CL E G H45767499OMIM:168600Parkinson disease, late-onset.
HP:0002063HP:0002063Rigidity0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0002063HP:0002063Rigidity0TUBB4A CL E G H1038220774OMIM:612438Leukodystrophy, hypomyelinating, 6.66
HP:0002063HP:0002063Rigidity0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0002063HP:0002063Rigidity0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0002063HP:0002063Rigidity0UBTF CL E G H734312511OMIM:617672Neurodegeneration, childhood-onset, with brain atrophy.1
HP:0002063HP:0002063Rigidity0UCHL1 CL E G H734512513OMIM:613643PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK521
HP:0002063HP:0002063Rigidity0UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson diseaseHP:0040281 - Very frequent21
HP:0002063HP:0002063Rigidity0UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0002063HP:0002063Rigidity0VPS13C CL E G H5483223594OMIM:616840Parkinson disease 23, autosomal recessive early-onset8
HP:0002063HP:0002063Rigidity0VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson diseaseHP:0040281 - Very frequent8
HP:0002063HP:0002063Rigidity0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional37
HP:0002063HP:0002063Rigidity0VPS35 CL E G H5573713487OMIM:614203Parkinson disease 17.37
HP:0002063HP:0002063Rigidity0WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegenerationHP:0040282 - Frequent51
HP:0002063HP:0002063Rigidity0WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 5.51
HP:0002063HP:0002063Rigidity0WWOX CL E G H5174112799OMIM:616211Epileptic encephalopathy, early infantile, 28.149
HP:0002063HP:0002063Rigidity0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional149
HP:0002063HP:0002063Rigidity0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002063HP:0011444Decorticate rigidity1 CL E G H
HP:0002063HP:0007076Extrapyramidal muscular rigidity1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent116
HP:0002063HP:0002396Cogwheel rigidity1ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional116
HP:0002063HP:0025013Decerebrate rigidity1ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040284 - Very rare253
HP:0002063HP:0025013Decerebrate rigidity1ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040284 - Very rare253
HP:0002063HP:0025013Decerebrate rigidity1ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040284 - Very rare253
HP:0002063HP:0025013Decerebrate rigidity1ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040284 - Very rare48
HP:0002063HP:0002396Cogwheel rigidity1ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional
HP:0002063HP:0002396Cogwheel rigidity1ATP6AP2 CL E G H1015918305OMIM:300911Parkinsonism with spasticity, X-linked.36
HP:0002063HP:0007076Extrapyramidal muscular rigidity1ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040282 - Frequent36
HP:0002063HP:0002396Cogwheel rigidity1ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndromeHP:0040281 - Very frequent36
HP:0002063HP:0007076Extrapyramidal muscular rigidity1CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0002063HP:0002396Cogwheel rigidity1CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA.115
HP:0002063HP:0002396Cogwheel rigidity1DAB1 CL E G H16002661ORPHA:363710Spinocerebellar ataxia type 37HP:0040281 - Very frequent4
HP:0002063HP:0002396Cogwheel rigidity1FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 374
HP:0002063HP:0002396Cogwheel rigidity1GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040282 - Frequent134
HP:0002063HP:0002396Cogwheel rigidity1GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040282 - Frequent139
HP:0002063HP:0025013Decerebrate rigidity1GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0002063HP:0025013Decerebrate rigidity1GALC CL E G H25814115OMIM:245200Krabbe disease.160
HP:0002063HP:0002396Cogwheel rigidity1GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0002063HP:0025013Decerebrate rigidity1GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040283 - Occasional120
HP:0002063HP:0007076Extrapyramidal muscular rigidity1HLA-DQB1 CL E G H31194944OMIM:123400Creutzfeldt-Jakob disease.
HP:0002063HP:0007076Extrapyramidal muscular rigidity1IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent28
HP:0002063HP:0002396Cogwheel rigidity1KCNA4 CL E G H37396222OMIM:618284Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum.
HP:0002063HP:0002396Cogwheel rigidity1KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 19HP:0040283 - Occasional35
HP:0002063HP:0002396Cogwheel rigidity1KCND3 CL E G H37526239ORPHA:98772Spinocerebellar ataxia type 19/22HP:0040283 - Occasional35
HP:0002063HP:0002396Cogwheel rigidity1KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002063HP:0007076Extrapyramidal muscular rigidity1LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0002063HP:0007076Extrapyramidal muscular rigidity1MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndrome140
HP:0002063HP:0007076Extrapyramidal muscular rigidity1MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndrome140
HP:0002063HP:0007076Extrapyramidal muscular rigidity1MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndrome140
HP:0002063HP:0007076Extrapyramidal muscular rigidity1MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signs14
HP:0002063HP:0002396Cogwheel rigidity1MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 43HP:0040282 - Frequent18
HP:0002063HP:0002396Cogwheel rigidity1NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional7
HP:0002063HP:0007076Extrapyramidal muscular rigidity1OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040283 - Occasional163
HP:0002063HP:0002396Cogwheel rigidity1PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040282 - Frequent225
HP:0002063HP:0002396Cogwheel rigidity1POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0002063HP:0002396Cogwheel rigidity1POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0002063HP:0002396Cogwheel rigidity1POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0002063HP:0007076Extrapyramidal muscular rigidity1PRNP CL E G H56219449OMIM:123400Creutzfeldt-Jakob disease.69
HP:0002063HP:0007076Extrapyramidal muscular rigidity1PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob disease69
HP:0002063HP:0025013Decerebrate rigidity1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional81
HP:0002063HP:0025013Decerebrate rigidity1PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040284 - Very rare81
HP:0002063HP:0025013Decerebrate rigidity1PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040284 - Very rare81
HP:0002063HP:0025013Decerebrate rigidity1PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040284 - Very rare81
HP:0002063HP:0002396Cogwheel rigidity1RAB39B CL E G H11644216499ORPHA:2379Early-onset parkinsonism-intellectual disability syndromeHP:0040281 - Very frequent34
HP:0002063HP:0002396Cogwheel rigidity1RAB39B CL E G H11644216499OMIM:311510Waisman syndrome.34
HP:0002063HP:0007076Extrapyramidal muscular rigidity1RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent33
HP:0002063HP:0007076Extrapyramidal muscular rigidity1RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent34
HP:0002063HP:0007076Extrapyramidal muscular rigidity1RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent60
HP:0002063HP:0007076Extrapyramidal muscular rigidity1RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0002063HP:0002396Cogwheel rigidity1RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0002063HP:0007076Extrapyramidal muscular rigidity1SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent55
HP:0002063HP:0002396Cogwheel rigidity1SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040282 - Frequent1053
HP:0002063HP:0002396Cogwheel rigidity1SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040282 - Frequent126
HP:0002063HP:0002396Cogwheel rigidity1SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040282 - Frequent427
HP:0002063HP:0002396Cogwheel rigidity1SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040282 - Frequent318
HP:0002063HP:0002396Cogwheel rigidity1SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0002063HP:0002396Cogwheel rigidity1SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0002063HP:0002396Cogwheel rigidity1SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 113
HP:0002063HP:0007076Extrapyramidal muscular rigidity1TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonism21
HP:0002063HP:0002396Cogwheel rigidity1TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional103
HP:0002063HP:0002396Cogwheel rigidity1TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 21.9
HP:0002063HP:0007076Extrapyramidal muscular rigidity1TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent56
HP:0002063HP:0002396Cogwheel rigidity1TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0002063HP:0007158Progressive extrapyramidal muscular rigidity2MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040282 - Frequent140
HP:0002063HP:0007158Progressive extrapyramidal muscular rigidity2MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040282 - Frequent140
HP:0002063HP:0007158Progressive extrapyramidal muscular rigidity2MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndromeHP:0040283 - Occasional140
HP:0002063HP:0007158Progressive extrapyramidal muscular rigidity2MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040282 - Frequent14
HP:0002063HP:0007158Progressive extrapyramidal muscular rigidity2PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0002063HP:0007158Progressive extrapyramidal muscular rigidity2TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040282 - Frequent21


Genes (208) :AARS1 ABCA12 ACTA1 ACTL6B ADAR ADH1C AFG3L2 AP3B2 ARSA ARV1 ARX ASPA ATAD1 ATL1 ATP13A2 ATP1A2 ATP1A3 ATP6 ATP6AP2 ATP6V1A ATP7B ATXN2 ATXN3 ATXN8 ATXN8OS BRAT1 C19ORF12 C9ORF72 CACNA1A CACNA1B CACNA2D1 CASK CDK19 CELF2 CHKA CHMP2B CLN3 CLTC CNKSR2 COASY COQ2 CP CRYAB CSF1R CTSD CYFIP2 DAB1 DALRD3 DCTN1 DDHD1 DDHD2 DHCR24 DHDDS DNAJC13 DNAJC6 DNM1 EEF1A2 EIF2AK2 EIF4G1 FBXO7 FGF12 FGF13 FGFR1 FMR1 FOXRED1 FRRS1L FTL FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRG2 GALC GAMT GBA1 GCDH GCH1 GFAP GIGYF2 GJC2 GLB1 GLRA1 GLRB GLUD2 GPHN GRIN2D HCN1 HLA-DQB1 HTRA1 HTRA2 HTT IFIH1 IMPDH2 INPP5K ITM2B JAM2 JPH3 KCNA2 KCNA4 KCNB1 KCND3 KCNN2 KIF11 KRAS LDHA LNPK LOXL1 LRRK2 LSM11 MAPT MECP2 MECR MICU1 MME MYO5A NAXE NDUFAF6 NECAP1 NOTCH2NLC NR4A2 NTRK2 NUP62 NUS1 OGDH OPA3 PANK2 PARK7 PARS2 PCDH19 PDE8B PDGFB PDGFRB PEX16 PINK1 PLA2G6 PLAA PNKD PODXL POLG POLG2 PPP3CA PRKCG PRKN PRNP PRRT2 PSAP PTCD3 PTS RAB39B RANBP2 REEP2 RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 RRM2B RYR1 SAMHD1 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SEMA6B SIL1 SLC13A5 SLC19A3 SLC1A2 SLC1A3 SLC20A2 SLC25A4 SLC2A3 SLC30A10 SLC38A3 SLC6A3 SLC6A5 SMPD1 SNCA SNCAIP SPR STUB1 SYNGAP1 SYNJ1 SZT2 TAF1 TBP TH TK2 TMEM240 TRAK1 TREX1 TRNT TSPOAP1 TUBB4A TWNK UBA5 UBTF UCHL1 UQCRC1 VPS13C VPS35 WDR45 WWOX YWHAG

Diseases (175) :OMIM:619661 ORPHA:442835 OMIM:242500 OMIM:161800 ORPHA:51 OMIM:615010 ORPHA:225154 OMIM:168600 ORPHA:101109 ORPHA:309271 ORPHA:309263 ORPHA:309256 ORPHA:3175 ORPHA:314911 ORPHA:3197 ORPHA:100984 ORPHA:314632 OMIM:606693 ORPHA:306674 ORPHA:2131 OMIM:300423 OMIM:300911 ORPHA:93952 ORPHA:363654 OMIM:277900 OMIM:183090 OMIM:109150 ORPHA:98760 OMIM:614498 ORPHA:289560 ORPHA:401901 ORPHA:163937 OMIM:620023 OMIM:600795 ORPHA:228346 OMIM:615643 OMIM:146500 ORPHA:227510 ORPHA:98933 OMIM:604290 ORPHA:48818 OMIM:613869 OMIM:618476 OMIM:221820 OMIM:610127 ORPHA:363710 OMIM:168605 ORPHA:101008 OMIM:615033 ORPHA:35107 OMIM:617836 ORPHA:411602 ORPHA:391411 OMIM:615528 ORPHA:2828 OMIM:618877 OMIM:614251 OMIM:260300 ORPHA:171695 ORPHA:2396 ORPHA:93256 OMIM:618241 OMIM:616981 OMIM:606159 ORPHA:33069 ORPHA:206436 OMIM:245200 OMIM:612736 OMIM:230900 OMIM:231670 ORPHA:25 ORPHA:98808 OMIM:128230 OMIM:233910 ORPHA:363722 OMIM:607688 OMIM:608804 ORPHA:79255 OMIM:123400 OMIM:600142 ORPHA:199354 OMIM:610297 ORPHA:399 OMIM:143100 ORPHA:248111 ORPHA:559 OMIM:176500 OMIM:618824 OMIM:606438 OMIM:618284 OMIM:607346 ORPHA:98772 OMIM:619725 ORPHA:2526 OMIM:612933 OMIM:618090 OMIM:177650 OMIM:607060 ORPHA:240071 ORPHA:240103 ORPHA:240085 ORPHA:240112 OMIM:260540 OMIM:601104 OMIM:300673 OMIM:300260 OMIM:617282 ORPHA:401768 OMIM:617018 ORPHA:497764 ORPHA:33445 OMIM:617186 OMIM:618239 OMIM:603472 OMIM:619911 OMIM:203740 ORPHA:67036 ORPHA:216873 OMIM:234200 OMIM:606324 ORPHA:228169 OMIM:609161 OMIM:213600 OMIM:614877 OMIM:605909 ORPHA:199351 OMIM:612953 OMIM:617527 ORPHA:521426 ORPHA:98810 ORPHA:254892 ORPHA:254886 OMIM:157640 OMIM:258450 ORPHA:98763 OMIM:600116 OMIM:137440 OMIM:603218 ORPHA:282166 OMIM:619491 OMIM:619057 ORPHA:13 OMIM:261640 ORPHA:2379 OMIM:311510 ORPHA:88619 ORPHA:401849 ORPHA:2636 OMIM:145600 OMIM:618876 OMIM:607483 ORPHA:309854 OMIM:613280 OMIM:613135 OMIM:257200 OMIM:168601 ORPHA:70594 ORPHA:412057 OMIM:615530 ORPHA:53351 OMIM:607136 ORPHA:98759 ORPHA:101150 OMIM:605407 OMIM:607454 ORPHA:98773 OMIM:612438 OMIM:617672 OMIM:613643 OMIM:619279 OMIM:616840 OMIM:614203 ORPHA:329284 OMIM:300894 OMIM:616211
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.