| Metadata | |
|---|---|
| ID | DOID:0060556 |
| Name | Kufor-Rakeb syndrome |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/15986421, https://www.ncbi.nlm.nih.gov/pubmed/23791710 |
| Xrefs |
SNOMEDCT_US_2023_03_01:723992000 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive juvenile onset Parkinson disease 9 [EXACT] autosomal recessive Parkinson disease 9 [EXACT] |
| Parent Relationships |