An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36. [ url:https://www.ncbi.nlm.nih.gov/pubmed/15986421 http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/23791710 ]
Synonyms: autosomal recessive Parkinson disease 9 autosomal recessive juvenile onset Parkinson disease 9
Term information
- UMLS_CUI:C1847640
- MIM:606693
- MESH:C537177
- SNOMEDCT_US_2023_03_01:723992000
- ORDO:306674
DO_rare_slim