OBO ID: DOID:0060556
Term Name: Kufor-Rakeb syndrome Search Ontology:
Synonyms:
  • autosomal recessive juvenile onset Parkinson disease 9
  • autosomal recessive Parkinson disease 9
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)
References:
Ontology: Human Disease   (DOID:0060556)
OTHER Kufor-Rakeb syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATP13A2 Kufor-Rakeb syndrome 606693
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None