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Disease Ontology Browser
Kufor-Rakeb syndrome (DOID:0060556)
Alliance: disease page
Synonyms: autosomal recessive juvenile onset Parkinson disease 9; autosomal recessive Parkinson disease 9
Alt IDs: OMIM:606693, MESH:C537177, ORDO:306674, UMLS_CUI:C1847640
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory