Human Phenotype Ontology 
Grandparent Node:
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Abnormal central motor function (HP:0011442)help
Parent Node:
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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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001300HP:0001300Parkinsonism0ABCA7 CL E G H103471020ORPHA126937605414
HP:0001300HP:0001300Parkinsonism0AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0001300HP:0001300Parkinsonism0APOE CL E G H348104310Alzheimer disease 2104310C1863051OMIM1166613107741
HP:0001300HP:0001300Parkinsonism0APP CL E G H3511020ORPHA1506620104760
HP:0001300HP:0001300Parkinsonism0APP CL E G H351104300Alzheimer's disease104300C0002395OMIM1506620104760
HP:0001300HP:0001300Parkinsonism0ATP13A2 CL E G H23400306674ORPHA197430213610513
HP:0001300HP:0001300Parkinsonism0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001300HP:0001300Parkinsonism0ATP1A3 CL E G H47871517ORPHA1993801182350
HP:0001300HP:0001300Parkinsonism0ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1993801182350
HP:0001300HP:0001300Parkinsonism0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM134018305300556
HP:0001300HP:0001300Parkinsonism0ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM134018305300556
HP:0001300HP:0001300Parkinsonism0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001300HP:0001300Parkinsonism0C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001300HP:0001300Parkinsonism0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001300HP:0001300Parkinsonism0C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0001300HP:0001300Parkinsonism0C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117728337614260
HP:0001300HP:0001300Parkinsonism0CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0001300HP:0001300Parkinsonism0CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM110152074607042
HP:0001300HP:0001300Parkinsonism0COASY CL E G H80347397725ORPHA128129932609855
HP:0001300HP:0001300Parkinsonism0COQ2 CL E G H2723598933ORPHA134625223609825
HP:0001300HP:0001300Parkinsonism0CP CL E G H135648818ORPHA18312295117700
HP:0001300HP:0001300Parkinsonism0DCTN1 CL E G H1639178509ORPHA110842711601143
HP:0001300HP:0001300Parkinsonism0DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM110842711601143
HP:0001300HP:0001300Parkinsonism0DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM142816235611203
HP:0001300HP:0001300Parkinsonism0DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001300HP:0001300Parkinsonism0FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001300HP:0001300Parkinsonism0FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13713775309550
HP:0001300HP:0001300Parkinsonism0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001300HP:0001300Parkinsonism0FUS CL E G H2521275872ORPHA14744010137070
HP:0001300HP:0001300Parkinsonism0GCH1 CL E G H264398808ORPHA14284193600225
HP:0001300HP:0001300Parkinsonism0GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM14284193600225
HP:0001300HP:0001300Parkinsonism0GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM15944601138945
HP:0001300HP:0001300Parkinsonism0MAPT CL E G H4137600274Frontotemporal dementia600274C0338451OMIM15816893157140
HP:0001300HP:0001300Parkinsonism0MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15816893157140
HP:0001300HP:0001300Parkinsonism0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15816893157140
HP:0001300HP:0001300Parkinsonism0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0001300HP:0001300Parkinsonism0NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001300HP:0001300Parkinsonism0PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001300HP:0001300Parkinsonism0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001300HP:0001300Parkinsonism0PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM12228772610652
HP:0001300HP:0001300Parkinsonism0PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001300HP:0001300Parkinsonism0PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM11518800190040
HP:0001300HP:0001300Parkinsonism0PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001300HP:0001300Parkinsonism0PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001300HP:0001300Parkinsonism0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001300HP:0001300Parkinsonism0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0001300HP:0001300Parkinsonism0PPP2R2B CL E G H552198762ORPHA1719305604325
HP:0001300HP:0001300Parkinsonism0PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001300HP:0001300Parkinsonism0PRKAR1B CL E G H5575412066ORPHA12459390176911
HP:0001300HP:0001300Parkinsonism0PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001300HP:0001300Parkinsonism0PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001300HP:0001300Parkinsonism0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001300HP:0001300Parkinsonism0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001300HP:0001300Parkinsonism0PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001300HP:0001300Parkinsonism0PSEN1 CL E G H5663600274Frontotemporal dementia600274C0338451OMIM15019508104311
HP:0001300HP:0001300Parkinsonism0PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001300HP:0001300Parkinsonism0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001300HP:0001300Parkinsonism0RAB39B CL E G H116442311510Parkinsonism, early onset with mental retardation311510C0796195OMIM132016499300774
HP:0001300HP:0001300Parkinsonism0SLC18A2 CL E G H6571352649ORPHA118310935193001
HP:0001300HP:0001300Parkinsonism0SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001300HP:0001300Parkinsonism0SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001300HP:0001300Parkinsonism0SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001300HP:0001300Parkinsonism0SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001300HP:0001300Parkinsonism0SLC6A3 CL E G H6531238455ORPHA158311049126455
HP:0001300HP:0001300Parkinsonism0SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001300HP:0001300Parkinsonism0SNCA CL E G H6622171695ORPHA119311138163890
HP:0001300HP:0001300Parkinsonism0SNCA CL E G H6622127750Lewy body dementia127750C0752347OMIM119311138163890
HP:0001300HP:0001300Parkinsonism0SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001300HP:0001300Parkinsonism0SNCA CL E G H6622605543Parkinson disease 4605543C1854182OMIM119311138163890
HP:0001300HP:0001300Parkinsonism0SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001300HP:0001300Parkinsonism0SNCB CL E G H6620127750Lewy body dementia127750C0752347OMIM17211140602569
HP:0001300HP:0001300Parkinsonism0SORL1 CL E G H66531020ORPHA153711185602005
HP:0001300HP:0001300Parkinsonism0SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0001300HP:0001300Parkinsonism0SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001300HP:0001300Parkinsonism0TARDBP CL E G H23435275872ORPHA130911571605078
HP:0001300HP:0001300Parkinsonism0TBK1 CL E G H29110275872ORPHA138211584604834
HP:0001300HP:0001300Parkinsonism0TBP CL E G H690898759ORPHA113111588600075
HP:0001300HP:0001300Parkinsonism0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001300HP:0001300Parkinsonism0TH CL E G H7054101150ORPHA196711782191290
HP:0001300HP:0001300Parkinsonism0TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM196711782191290
HP:0001300HP:0001300Parkinsonism0TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM123725186616101
HP:0001300HP:0001300Parkinsonism0TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001300HP:0001300Parkinsonism0TREM2 CL E G H542091020ORPHA115417761605086
HP:0001300HP:0001300Parkinsonism0UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001300HP:0001300Parkinsonism0VCP CL E G H7415275872ORPHA160712666601023
HP:0001300HP:0001300Parkinsonism0VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001300HP:0001300Parkinsonism0VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM182823594608879
HP:0001300HP:0001300Parkinsonism0WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001300HP:0001300Parkinsonism0WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001300HP:0001300Parkinsonism0XPR1 CL E G H9213616413Basal ganglia calcification, idiopathic, 6616413C4225335OMIM123412827605237
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1ABCA7 CL E G H103471020ORPHA126937605414
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1APOE CL E G H348104310Alzheimer disease 2104310C1863051OMIM1166613107741
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1APP CL E G H3511020ORPHA1506620104760
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1APP CL E G H351104300Alzheimer's disease104300C0002395OMIM1506620104760
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1ATP13A2 CL E G H23400306674ORPHA197430213610513
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1ATP1A3 CL E G H47871517ORPHA1993801182350
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1993801182350
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM134018305300556
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM134018305300556
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117728337614260
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM110152074607042
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1COASY CL E G H80347397725ORPHA128129932609855
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1COQ2 CL E G H2723598933ORPHA134625223609825
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1CP CL E G H135648818ORPHA18312295117700
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1DCTN1 CL E G H1639178509ORPHA110842711601143
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM110842711601143
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM142816235611203
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13713775309550
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1FUS CL E G H2521275872ORPHA14744010137070
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1GCH1 CL E G H264398808ORPHA14284193600225
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM14284193600225
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM15944601138945
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1MAPT CL E G H4137600274Frontotemporal dementia600274C0338451OMIM15816893157140
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15816893157140
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15816893157140
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM12228772610652
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM11518800190040
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PPP2R2B CL E G H552198762ORPHA1719305604325
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PRKAR1B CL E G H5575412066ORPHA12459390176911
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PSEN1 CL E G H5663600274Frontotemporal dementia600274C0338451OMIM15019508104311
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1RAB39B CL E G H116442311510Parkinsonism, early onset with mental retardation311510C0796195OMIM132016499300774
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1SLC18A2 CL E G H6571352649ORPHA118310935193001
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1SLC6A3 CL E G H6531238455ORPHA158311049126455
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1SNCA CL E G H6622127750Lewy body dementia127750C0752347OMIM119311138163890
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1SNCA CL E G H6622605543Parkinson disease 4605543C1854182OMIM119311138163890
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1SNCB CL E G H6620127750Lewy body dementia127750C0752347OMIM17211140602569
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1SORL1 CL E G H66531020ORPHA153711185602005
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1TARDBP CL E G H23435275872ORPHA130911571605078
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1TBK1 CL E G H29110275872ORPHA138211584604834
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1TBP CL E G H690898759ORPHA113111588600075
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1TH CL E G H7054101150ORPHA196711782191290
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM196711782191290
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM123725186616101
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1TREM2 CL E G H542091020ORPHA115417761605086
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1VCP CL E G H7415275872ORPHA160712666601023
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM182823594608879
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1XPR1 CL E G H9213616413Basal ganglia calcification, idiopathic, 6616413C4225335OMIM123412827605237
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001300HP:0001300Parkinsonism0AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001300HP:0001300Parkinsonism0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001300HP:0001300Parkinsonism0AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0001300HP:0001300Parkinsonism0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM097430213610513
HP:0001300HP:0001300Parkinsonism0ATXN2 CL E G H631198756ORPHA011510555601517
HP:0001300HP:0001300Parkinsonism0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001300HP:0001300Parkinsonism0C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001300HP:0001300Parkinsonism0C9orf72 CL E G H203228100070ORPHA017728337614260
HP:0001300HP:0001300Parkinsonism0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM029715559615903
HP:0001300HP:0001300Parkinsonism0CHMP2B CL E G H25978100070ORPHA016024537609512
HP:0001300HP:0001300Parkinsonism0COQ2 CL E G H27235227510ORPHA034625223609825
HP:0001300HP:0001300Parkinsonism0DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM011528908606060
HP:0001300HP:0001300Parkinsonism0FMR1 CL E G H233293256ORPHA03713775309550
HP:0001300HP:0001300Parkinsonism0FTL CL E G H2512157846ORPHA01853999134790
HP:0001300HP:0001300Parkinsonism0GRN CL E G H2896100070ORPHA05944601138945
HP:0001300HP:0001300Parkinsonism0JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001300HP:0001300Parkinsonism0KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM010146323602821
HP:0001300HP:0001300Parkinsonism0MAPT CL E G H4137100070ORPHA05816893157140
HP:0001300HP:0001300Parkinsonism0PDGFRB CL E G H5159615007Basal ganglia calcification, idiopathic, 4615007C3554321OMIM05318804173410
HP:0001300HP:0001300Parkinsonism0PSEN1 CL E G H5663100070ORPHA05019508104311
HP:0001300HP:0001300Parkinsonism0TMEM106B CL E G H54664100070ORPHA012822407613413
HP:0001300HP:0001300Parkinsonism0TREM2 CL E G H54209100070ORPHA015417761605086
HP:0001300HP:0001300Parkinsonism0TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0001300HP:0001300Parkinsonism0VCP CL E G H7415100070ORPHA060712666601023
HP:0001300HP:0001300Parkinsonism0VCP CL E G H7415329478ORPHA060712666601023
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1AP5Z1 CL E G H9907306511ORPHA0102122197613653
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM097430213610513
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1ATXN2 CL E G H631198756ORPHA011510555601517
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1C9orf72 CL E G H203228100070ORPHA017728337614260
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM029715559615903
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1CHMP2B CL E G H25978100070ORPHA016024537609512
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1COQ2 CL E G H27235227510ORPHA034625223609825
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM011528908606060
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1FMR1 CL E G H233293256ORPHA03713775309550
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1FTL CL E G H2512157846ORPHA01853999134790
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1GRN CL E G H2896100070ORPHA05944601138945
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM010146323602821
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1MAPT CL E G H4137100070ORPHA05816893157140
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PDGFRB CL E G H5159615007Basal ganglia calcification, idiopathic, 4615007C3554321OMIM05318804173410
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1PSEN1 CL E G H5663100070ORPHA05019508104311
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1TMEM106B CL E G H54664100070ORPHA012822407613413
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1TREM2 CL E G H54209100070ORPHA015417761605086
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1VCP CL E G H7415100070ORPHA060712666601023
HP:0001300HP:0002548Parkinsonism with favorable response to dopaminergic medication1VCP CL E G H7415329478ORPHA060712666601023


Genes (85) :ABCA7 AFG3L2 AP5Z1 APOE APP ATP13A2 ATP1A3 ATP6AP2 ATXN2 ATXN3 C19ORF12 C19orf12 C9ORF72 C9orf72 CHCHD10 CHMP2B CLN3 COASY COQ2 CP DCTN1 DNAJC12 DNAJC13 DNAJC5 DNAJC6 EIF4G1 FBXO7 FMR1 FTL FUS GBA GCH1 GIGYF2 GRN JPH3 KIF5A LRRK2 MAPT MECP2 NR4A2 PANK2 PDE10A PDGFB PDGFRB PINK1 PLA2G6 POLG PPP2R2B PRKAR1B PRKN PRKRA PRNP PSEN1 PSEN2 PTS RAB39B SLC18A2 SLC20A2 SLC30A10 SLC39A14 SLC6A3 SNCA SNCAIP SNCB SORL1 SQSTM1 SYNJ1 TAF1 TARDBP TBK1 TBP TH TK2 TMEM106B TMEM240 TOMM40 TREM2 TWNK UBTF VCP VPS13A VPS13C VPS35 WDR45 XPR1

Diseases (99) :1020 101109 610246 306511 613647 104310 104300 306674 606693 617225 71517 128235 300423 300911 98756 183090 109150 289560 614298 275872 401901 100070 105550 615911 204200 397725 227510 98933 48818 178509 168605 617384 162350 615528 171695 93256 300623 157846 606159 98808 128230 607485 98934 604187 600274 260540 601104 300055 168600 216873 234200 616922 213600 615483 615007 605909 612953 258450 98762 604326 412066 600116 210571 612067 137440 261640 311510 352649 618049 613280 617013 238455 613135 127750 168601 605543 615530 98759 607136 101150 605407 607454 609286 617672 329478 200150 616840 329284 300894 616413 314632 411602 260300 494541 199351 254886 157640 53351 314250
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.