Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal central motor function (HP:0011442)help
Parent Node:
expand
Abnormality of extrapyramidal motor function (HP:0002071)help
..Starting node
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Parkinsonism (HP:0001300)help
Term ID: 1300
Name: Parkinsonism
Synonym: Parkinsonian disease
Definition: Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Comments:
Reference: HP:0001300
Genes and Diseases:
 
       Child Nodes:
........expandParkinsonism with favorable response to dopaminergic medication (HP:0002548) help

 Sister Nodes: 
..expandAthetoid cerebral palsy (HP:0011445) help
..expandBradykinesia (HP:0002067) help
..expandExaggerated startle response (HP:0002267) help
..expandExtrapyramidal dyskinesia (HP:0007308) help
..expandExtrapyramidal muscular rigidity (HP:0007076) help
..expandProgressive extrapyramidal movement disorder (HP:0007153) 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:0001300HP:0001300Parkinsonism0ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent3
HP:0001300HP:0001300Parkinsonism0ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset.4
HP:0001300HP:0001300Parkinsonism0AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 28HP:0040283 - Occasional86
HP:0001300HP:0001300Parkinsonism0AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 28HP:0040283 - Occasional86
HP:0001300HP:0001300Parkinsonism0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0001300HP:0001300Parkinsonism0AOPEP CL E G H849091361OMIM:619565DYSTONIA 31; DYT31
HP:0001300HP:0001300Parkinsonism0AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48HP:0040283 - Occasional165
HP:0001300HP:0001300Parkinsonism0AP5Z1 CL E G H990722197OMIM:613647Spastic paraplegia 48, autosomal recessive.165
HP:0001300HP:0001300Parkinsonism0APOE CL E G H348613OMIM:104310Alzheimer disease 2.39
HP:0001300HP:0001300Parkinsonism0APP CL E G H351620OMIM:104300Alzheimer disease.74
HP:0001300HP:0001300Parkinsonism0APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent74
HP:0001300HP:0001300Parkinsonism0ATN1 CL E G H18223033OMIM:125370Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia16
HP:0001300HP:0001300Parkinsonism0ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosis100
HP:0001300HP:0001300Parkinsonism0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040281 - Very frequent100
HP:0001300HP:0001300Parkinsonism0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome.100
HP:0001300HP:0001300Parkinsonism0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0001300HP:0001300Parkinsonism0ATP1A3 CL E G H478801OMIM:128235Dystonia 12.150
HP:0001300HP:0001300Parkinsonism0ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonismHP:0040282 - Frequent150
HP:0001300HP:0001300Parkinsonism0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0001300HP:0001300Parkinsonism0ATP6AP2 CL E G H1015918305OMIM:300911Parkinsonism with spasticity, X-linked.36
HP:0001300HP:0001300Parkinsonism0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0001300HP:0001300Parkinsonism0ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset.11
HP:0001300HP:0001300Parkinsonism0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0001300HP:0001300Parkinsonism0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040283 - Occasional11
HP:0001300HP:0001300Parkinsonism0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0001300HP:0001300Parkinsonism0ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset.1
HP:0001300HP:0001300Parkinsonism0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegenerationHP:0040282 - Frequent114
HP:0001300HP:0001300Parkinsonism0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0001300HP:0001300Parkinsonism0C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1.56
HP:0001300HP:0001300Parkinsonism0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent56
HP:0001300HP:0001300Parkinsonism0C9ORF72 CL E G H20322828337ORPHA:401901Huntington disease-like syndrome due to C9ORF72 expansionsHP:0040283 - Occasional56
HP:0001300HP:0001300Parkinsonism0C9ORF72 CL E G H20322828337ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional56
HP:0001300HP:0001300Parkinsonism0CAT CL E G H8471516ORPHA:926AcatalasemiaHP:0040284 - Very rare5
HP:0001300HP:0001300Parkinsonism0CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2HP:0040283 - Occasional11
HP:0001300HP:0001300Parkinsonism0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent11
HP:0001300HP:0001300Parkinsonism0CHMP2B CL E G H2597824537ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional42
HP:0001300HP:0001300Parkinsonism0CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3.216
HP:0001300HP:0001300Parkinsonism0COASY CL E G H8034729932ORPHA:397725COASY protein-associated neurodegenerationHP:0040281 - Very frequent16
HP:0001300HP:0001300Parkinsonism0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0001300HP:0001300Parkinsonism0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040283 - Occasional54
HP:0001300HP:0001300Parkinsonism0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0001300HP:0001300Parkinsonism0CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040283 - Occasional115
HP:0001300HP:0001300Parkinsonism0CSF1R CL E G H14362433OMIM:221820Leukoencephalopathy, diffuse hereditary, with spheroids149
HP:0001300HP:0001300Parkinsonism0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040283 - Occasional114
HP:0001300HP:0001300Parkinsonism0DCTN1 CL E G H16392711ORPHA:178509Perry syndromeHP:0040281 - Very frequent86
HP:0001300HP:0001300Parkinsonism0DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0001300HP:0001300Parkinsonism0DNAJC12 CL E G H5652128908OMIM:617384Hyperphenylalaninemia, MILD, non-bh4-deficient3
HP:0001300HP:0001300Parkinsonism0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040280 - Obligate2
HP:0001300HP:0001300Parkinsonism0DNAJC5 CL E G H8033116235OMIM:162350Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant.155
HP:0001300HP:0001300Parkinsonism0DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset.6
HP:0001300HP:0001300Parkinsonism0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0001300HP:0001300Parkinsonism0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040280 - Obligate2
HP:0001300HP:0001300Parkinsonism0EIF4G1 CL E G H19813296OMIM:614251Parkinson disease 18.2
HP:0001300HP:0001300Parkinsonism0FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset.36
HP:0001300HP:0001300Parkinsonism0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040280 - Obligate36
HP:0001300HP:0001300Parkinsonism0FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0001300HP:0001300Parkinsonism0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040283 - Occasional30
HP:0001300HP:0001300Parkinsonism0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 3.33
HP:0001300HP:0001300Parkinsonism0FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040283 - Occasional33
HP:0001300HP:0001300Parkinsonism0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent105
HP:0001300HP:0001300Parkinsonism0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0001300HP:0001300Parkinsonism0GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040282 - Frequent134
HP:0001300HP:0001300Parkinsonism0GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040282 - Frequent139
HP:0001300HP:0001300Parkinsonism0GBA1 CL E G H26294177OMIM:127750Dementia, lewy body.
HP:0001300HP:0001300Parkinsonism0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040280 - Obligate
HP:0001300HP:0001300Parkinsonism0GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset.
HP:0001300HP:0001300Parkinsonism0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent86
HP:0001300HP:0001300Parkinsonism0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0001300HP:0001300Parkinsonism0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040280 - Obligate8
HP:0001300HP:0001300Parkinsonism0GIGYF2 CL E G H2605811960OMIM:607688PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK118
HP:0001300HP:0001300Parkinsonism0GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset.1
HP:0001300HP:0001300Parkinsonism0GRN CL E G H28964601OMIM:607485Frontotemporal lobar degeneration with TDP43 inclusions.126
HP:0001300HP:0001300Parkinsonism0GRN CL E G H28964601ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional126
HP:0001300HP:0001300Parkinsonism0HFE CL E G H30774886OMIM:104300Alzheimer disease.38
HP:0001300HP:0001300Parkinsonism0HTRA2 CL E G H2742914348OMIM:610297PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK1339
HP:0001300HP:0001300Parkinsonism0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent1
HP:0001300HP:0001300Parkinsonism0JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0001300HP:0001300Parkinsonism0JPH3 CL E G H5733814203ORPHA:98934Huntington disease-like 2HP:0040283 - Occasional2
HP:0001300HP:0001300Parkinsonism0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0001300HP:0001300Parkinsonism0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 10HP:0040284 - Very rare93
HP:0001300HP:0001300Parkinsonism0KIF5A CL E G H37986323OMIM:604187Spastic paraplegia 10, autosomal dominantHP:0040283 - Occasional93
HP:0001300HP:0001300Parkinsonism0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040280 - Obligate221
HP:0001300HP:0001300Parkinsonism0LRRK2 CL E G H12089218618OMIM:607060Parkinson disease 8, autosomal dominant.221
HP:0001300HP:0001300Parkinsonism0LYST CL E G H11301968ORPHA:167Ch├ędiak-Higashi syndromeHP:0040283 - Occasional239
HP:0001300HP:0001300Parkinsonism0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040282 - Frequent140
HP:0001300HP:0001300Parkinsonism0MAPT CL E G H41376893OMIM:600274Frontotemporal dementia.140
HP:0001300HP:0001300Parkinsonism0MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset.140
HP:0001300HP:0001300Parkinsonism0MAPT CL E G H41376893ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional140
HP:0001300HP:0001300Parkinsonism0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndrome140
HP:0001300HP:0001300Parkinsonism0MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndrome140
HP:0001300HP:0001300Parkinsonism0MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndromeHP:0040283 - Occasional140
HP:0001300HP:0001300Parkinsonism0MAPT CL E G H41376893OMIM:260540Supranuclear palsy, progressive atypical.140
HP:0001300HP:0001300Parkinsonism0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140
HP:0001300HP:0001300Parkinsonism0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13.950
HP:0001300HP:0001300Parkinsonism0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040283 - Occasional950
HP:0001300HP:0001300Parkinsonism0MPO CL E G H43537218OMIM:104300Alzheimer disease.11
HP:0001300HP:0001300Parkinsonism0MYORG CL E G H5746219918OMIM:618317Basal ganglia calcification, idiopathic, 7, autosomal recessive.
HP:0001300HP:0001300Parkinsonism0NOS3 CL E G H48467876OMIM:104300Alzheimer disease.8
HP:0001300HP:0001300Parkinsonism0NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathyHP:0040283 - Occasional144
HP:0001300HP:0001300Parkinsonism0NR4A2 CL E G H49297981OMIM:61991127
HP:0001300HP:0001300Parkinsonism0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent27
HP:0001300HP:0001300Parkinsonism0NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset.27
HP:0001300HP:0001300Parkinsonism0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0001300HP:0001300Parkinsonism0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0001300HP:0001300Parkinsonism0PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0001300HP:0001300Parkinsonism0PCBD1 CL E G H50928646ORPHA:1578Pterin-4 alpha-carbinolamine dehydratase deficiencyHP:0040284 - Very rare24
HP:0001300HP:0001300Parkinsonism0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040282 - Frequent225
HP:0001300HP:0001300Parkinsonism0PDE10A CL E G H108468772ORPHA:494541Childhood-onset benign chorea with striatal involvement5
HP:0001300HP:0001300Parkinsonism0PDE10A CL E G H108468772OMIM:616922Striatal degeneration, autosomal dominant 25
HP:0001300HP:0001300Parkinsonism0PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 1.9
HP:0001300HP:0001300Parkinsonism0PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 5.9
HP:0001300HP:0001300Parkinsonism0PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 1.28
HP:0001300HP:0001300Parkinsonism0PDGFRB CL E G H51598804OMIM:615007Basal ganglia calcification, idiopathic, 4HP:0040283 - Occasional28
HP:0001300HP:0001300Parkinsonism0PINK1 CL E G H6501814581OMIM:605909Parkinson disease 6, autosomal recessive early-onset.55
HP:0001300HP:0001300Parkinsonism0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonism133
HP:0001300HP:0001300Parkinsonism0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive.133
HP:0001300HP:0001300Parkinsonism0PLAU CL E G H53289052OMIM:104300Alzheimer disease.50
HP:0001300HP:0001300Parkinsonism0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegia464
HP:0001300HP:0001300Parkinsonism0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0001300HP:0001300Parkinsonism0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0001300HP:0001300Parkinsonism0PPP2R2B CL E G H55219305OMIM:604326Spinocerebellar ataxia 12.5
HP:0001300HP:0001300Parkinsonism0PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 12HP:0040282 - Frequent5
HP:0001300HP:0001300Parkinsonism0PRKAR1B CL E G H55759390ORPHA:412066PRKAR1B-related neurodegenerative dementia with intermediate filamentsHP:0040282 - Frequent2
HP:0001300HP:0001300Parkinsonism0PRKN CL E G H50718607OMIM:600116Parkinson disease, juvenile, type 2138
HP:0001300HP:0001300Parkinsonism0PRKRA CL E G H85759438OMIM:612067Dystonia 16.37
HP:0001300HP:0001300Parkinsonism0PRKRA CL E G H85759438ORPHA:210571Dystonia 16HP:0040282 - Frequent37
HP:0001300HP:0001300Parkinsonism0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0001300HP:0001300Parkinsonism0PSAP CL E G H56609498OMIM:619491PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK2481
HP:0001300HP:0001300Parkinsonism0PSEN1 CL E G H56639508ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent241
HP:0001300HP:0001300Parkinsonism0PSEN1 CL E G H56639508OMIM:600274Frontotemporal dementia.241
HP:0001300HP:0001300Parkinsonism0PSEN1 CL E G H56639508ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional241
HP:0001300HP:0001300Parkinsonism0PSEN2 CL E G H56649509ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent59
HP:0001300HP:0001300Parkinsonism0PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0001300HP:0001300Parkinsonism0RAB39B CL E G H11644216499OMIM:311510Waisman syndrome.34
HP:0001300HP:0001300Parkinsonism0SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040282 - Frequent1053
HP:0001300HP:0001300Parkinsonism0SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040282 - Frequent126
HP:0001300HP:0001300Parkinsonism0SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040282 - Frequent427
HP:0001300HP:0001300Parkinsonism0SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040282 - Frequent318
HP:0001300HP:0001300Parkinsonism0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0001300HP:0001300Parkinsonism0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport diseaseHP:0040281 - Very frequent2
HP:0001300HP:0001300Parkinsonism0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 2.2
HP:0001300HP:0001300Parkinsonism0SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 1.70
HP:0001300HP:0001300Parkinsonism0SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 1.42
HP:0001300HP:0001300Parkinsonism0SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0001300HP:0001300Parkinsonism0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 2.5
HP:0001300HP:0001300Parkinsonism0SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonismHP:0040281 - Very frequent13
HP:0001300HP:0001300Parkinsonism0SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 1.13
HP:0001300HP:0001300Parkinsonism0SNCA CL E G H662211138OMIM:127750Dementia, lewy body.65
HP:0001300HP:0001300Parkinsonism0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040280 - Obligate65
HP:0001300HP:0001300Parkinsonism0SNCA CL E G H662211138OMIM:168601Parkinson disease 1, autosomal dominant.65
HP:0001300HP:0001300Parkinsonism0SNCA CL E G H662211138OMIM:605543Parkinson disease 4.65
HP:0001300HP:0001300Parkinsonism0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040280 - Obligate65
HP:0001300HP:0001300Parkinsonism0SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset.35
HP:0001300HP:0001300Parkinsonism0SNCB CL E G H662011140OMIM:127750Dementia, lewy body.2
HP:0001300HP:0001300Parkinsonism0SORL1 CL E G H665311185ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent3
HP:0001300HP:0001300Parkinsonism0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040283 - Occasional287
HP:0001300HP:0001300Parkinsonism0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0001300HP:0001300Parkinsonism0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0001300HP:0001300Parkinsonism0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent62
HP:0001300HP:0001300Parkinsonism0STUB1 CL E G H1027311427OMIM:618093SPINOCEREBELLAR ATAXIA 48; SCA4814
HP:0001300HP:0001300Parkinsonism0SYNJ1 CL E G H886711503OMIM:615530Parkinson disease 20, early-onset.9
HP:0001300HP:0001300Parkinsonism0TAF1 CL E G H687211535OMIM:314250Dystonia 3, torsion, X-linked21
HP:0001300HP:0001300Parkinsonism0TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonism21
HP:0001300HP:0001300Parkinsonism0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent65
HP:0001300HP:0001300Parkinsonism0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent20
HP:0001300HP:0001300Parkinsonism0TBP CL E G H690811588OMIM:168600Parkinson disease, late-onset.7
HP:0001300HP:0001300Parkinsonism0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0001300HP:0001300Parkinsonism0TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 17HP:0040282 - Frequent7
HP:0001300HP:0001300Parkinsonism0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0001300HP:0001300Parkinsonism0TH CL E G H705411782OMIM:605407Segawa syndrome, autosomal recessive.80
HP:0001300HP:0001300Parkinsonism0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegia103
HP:0001300HP:0001300Parkinsonism0TMEM106B CL E G H5466422407ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional
HP:0001300HP:0001300Parkinsonism0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 21.9
HP:0001300HP:0001300Parkinsonism0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0001300HP:0001300Parkinsonism0TOMM40 CL E G H1045218001ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent
HP:0001300HP:0001300Parkinsonism0TREM2 CL E G H5420917761ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent31
HP:0001300HP:0001300Parkinsonism0TREM2 CL E G H5420917761ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional31
HP:0001300HP:0001300Parkinsonism0TRNT CL E G H45767499OMIM:168600Parkinson disease, late-onset.
HP:0001300HP:0001300Parkinsonism0TRPM7 CL E G H5482217994OMIM:105500Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1.2
HP:0001300HP:0001300Parkinsonism0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0001300HP:0001300Parkinsonism0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3HP:0040284 - Very rare113
HP:0001300HP:0001300Parkinsonism0UBTF CL E G H734312511OMIM:617672Neurodegeneration, childhood-onset, with brain atrophy.1
HP:0001300HP:0001300Parkinsonism0UCHL1 CL E G H734512513OMIM:613643PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK521
HP:0001300HP:0001300Parkinsonism0UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0001300HP:0001300Parkinsonism0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040283 - Occasional63
HP:0001300HP:0001300Parkinsonism0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent63
HP:0001300HP:0001300Parkinsonism0VCP CL E G H741512666ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional63
HP:0001300HP:0001300Parkinsonism0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130
HP:0001300HP:0001300Parkinsonism0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040282 - Frequent130
HP:0001300HP:0001300Parkinsonism0VPS13C CL E G H5483223594OMIM:616840Parkinson disease 23, autosomal recessive early-onset8
HP:0001300HP:0001300Parkinsonism0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040280 - Obligate37
HP:0001300HP:0001300Parkinsonism0VPS35 CL E G H5573713487OMIM:614203Parkinson disease 17.37
HP:0001300HP:0001300Parkinsonism0WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0001300HP:0001300Parkinsonism0WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegenerationHP:0040282 - Frequent51
HP:0001300HP:0001300Parkinsonism0WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 5.51
HP:0001300HP:0001300Parkinsonism0XPR1 CL E G H921312827OMIM:616413Basal ganglia calcification, idiopathic, 6.4
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosisHP:0040282 - Frequent100
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome.100
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset.36
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent8
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1GIGYF2 CL E G H2605811960OMIM:607688PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK118
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1HTRA2 CL E G H2742914348OMIM:610297PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK1339
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent221
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1LRRK2 CL E G H12089218618OMIM:607060Parkinson disease 8, autosomal dominant.221
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040283 - Occasional140
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040283 - Occasional140
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndromeHP:0040281 - Very frequent140
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PDE10A CL E G H108468772ORPHA:494541Childhood-onset benign chorea with striatal involvementHP:0040283 - Occasional5
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PSAP CL E G H56609498OMIM:619491PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK2481
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1RAB39B CL E G H11644216499OMIM:311510Waisman syndrome34
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent65
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1TAF1 CL E G H687211535OMIM:314250Dystonia 3, torsion, X-linked.21
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040282 - Frequent21
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1TH CL E G H705411782OMIM:605407Segawa syndrome, autosomal recessive.80
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional103
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1UCHL1 CL E G H734512513OMIM:613643PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK521
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent37


Genes (126) :ABCA7 ADH1C AFG3L2 ALS2 AOPEP AP5Z1 APOE APP ATN1 ATP13A2 ATP1A3 ATP6AP2 ATP7B ATXN2 ATXN3 ATXN8OS C19ORF12 C9ORF72 CAT CHCHD10 CHMP2B CLN3 COASY COQ2 CP CSF1R CYP27A1 DCTN1 DNAJC12 DNAJC13 DNAJC5 DNAJC6 EIF2AK2 EIF4G1 FBXO7 FMR1 FTL FUS GABRA1 GABRG2 GBA1 GCH1 GIGYF2 GLUD2 GRN HFE HTRA2 IMPDH2 JAM2 JPH3 KCNN2 KIF5A LRRK2 LYST MAPT MECP2 MPO MYORG NOS3 NOTCH3 NR4A2 PANK2 PARK7 PCBD1 PCDH19 PDE10A PDGFB PDGFRB PINK1 PLA2G6 PLAU POLG PPP2R2B PRKAR1B PRKN PRKRA PRNP PSAP PSEN1 PSEN2 PTS RAB39B SCN1A SCN1B SCN2A SCN9A SIGMAR1 SLC18A2 SLC20A2 SLC30A10 SLC39A14 SLC6A3 SNCA SNCAIP SNCB SORL1 SPG11 SPTLC1 SQSTM1 STUB1 SYNJ1 TAF1 TARDBP TBK1 TBP TH TK2 TMEM106B TMEM240 TNR TOMM40 TREM2 TRNT TRPM7 TSPOAP1 TWNK UBTF UCHL1 UQCRC1 VCP VPS13A VPS13C VPS35 WARS2 WDR45 XPR1

Diseases (138) :ORPHA:1020 OMIM:168600 OMIM:610246 ORPHA:101109 ORPHA:300605 OMIM:619565 ORPHA:306511 OMIM:613647 OMIM:104310 OMIM:104300 OMIM:125370 ORPHA:314632 ORPHA:306674 OMIM:606693 OMIM:617225 OMIM:128235 ORPHA:71517 OMIM:300423 OMIM:300911 OMIM:277900 OMIM:183090 ORPHA:98756 OMIM:109150 ORPHA:289560 OMIM:614298 OMIM:105550 ORPHA:275872 ORPHA:401901 ORPHA:100070 ORPHA:926 OMIM:615911 OMIM:204200 ORPHA:397725 OMIM:146500 ORPHA:227510 ORPHA:98933 ORPHA:48818 OMIM:221820 ORPHA:909 ORPHA:178509 OMIM:168605 OMIM:617384 ORPHA:411602 OMIM:162350 OMIM:615528 OMIM:618877 OMIM:614251 OMIM:260300 ORPHA:171695 OMIM:300623 ORPHA:93256 OMIM:606159 ORPHA:157846 ORPHA:33069 OMIM:127750 ORPHA:98808 OMIM:128230 OMIM:607688 OMIM:607485 OMIM:610297 OMIM:618824 ORPHA:98934 OMIM:619725 ORPHA:100991 OMIM:604187 OMIM:607060 ORPHA:167 ORPHA:240071 OMIM:600274 ORPHA:240103 ORPHA:240085 ORPHA:240112 OMIM:260540 OMIM:601104 OMIM:300055 ORPHA:3077 OMIM:618317 ORPHA:136 OMIM:619911 ORPHA:216873 OMIM:234200 OMIM:606324 ORPHA:1578 ORPHA:494541 OMIM:616922 OMIM:213600 OMIM:615483 OMIM:615007 OMIM:605909 ORPHA:199351 OMIM:612953 ORPHA:254886 OMIM:157640 OMIM:258450 OMIM:604326 ORPHA:98762 ORPHA:412066 OMIM:600116 OMIM:612067 ORPHA:210571 OMIM:137440 OMIM:619491 OMIM:261640 OMIM:311510 ORPHA:352649 OMIM:618049 OMIM:613280 ORPHA:521406 OMIM:617013 ORPHA:238455 OMIM:613135 OMIM:168601 OMIM:605543 ORPHA:2822 OMIM:618093 OMIM:615530 OMIM:314250 ORPHA:53351 OMIM:607136 ORPHA:98759 ORPHA:101150 OMIM:605407 OMIM:607454 OMIM:619653 OMIM:105500 OMIM:609286 OMIM:617672 OMIM:613643 OMIM:619279 ORPHA:329478 OMIM:200150 ORPHA:2388 OMIM:616840 OMIM:614203 OMIM:619738 ORPHA:329284 OMIM:300894 OMIM:616413
 

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