Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of extrapyramidal motor function (HP:0002071)help
Parent Node:
expandParkinsonism (HP:0001300)help
..Starting node
..expandParkinsonism with favorable response to dopaminergic medication (HP:0002548)help
Term ID: 2548
Name: Parkinsonism with favorable response to dopaminergic medication
Synonym: Favorable response to levodopa; Favourable response to levodopa; Parkinsonism with favourable response to dopaminergic medication
Definition: Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.
Comments:
Reference: HP:0002548
Genes and Diseases:
 
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 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0DNAJC13 CL E G H23317411602ORPHA123730343614334
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0EIF4G1 CL E G H1981411602ORPHA11473296600495
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0GBA CL E G H2629411602ORPHA14177606463
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM14284193600225
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0GIGYF2 CL E G H26058411602ORPHA133811960612003
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0LRRK2 CL E G H120892411602ORPHA1294818618609007
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0SNCA CL E G H6622411602ORPHA119311138163890
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0TAF1 CL E G H687253351ORPHA153411535313650
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM153411535313650
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM196711782191290
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0VPS35 CL E G H55737411602ORPHA122813487601501
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0PDE10A CL E G H10846494541ORPHA02228772610652
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0POLG CL E G H5428254886ORPHA023249179174763
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0TK2 CL E G H7084254886ORPHA044211831188250


Genes (16) :ATP13A2 DNAJC13 EIF4G1 FBXO7 GBA GCH1 GIGYF2 LRRK2 PDE10A PLA2G6 POLG SNCA TAF1 TH TK2 VPS35

Diseases (12) :314632 606693 411602 260300 128230 494541 199351 254886 157640 53351 314250 605407
 

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