OBO ID: DOID:0060556 |
Term Name: | Kufor-Rakeb syndrome | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0060556 ) |
OTHER Kufor-Rakeb syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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