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Echinobase
Summary Literature (0)
DOID:0060556 - Kufor-Rakeb syndrome

Disease Ontology Definition:A 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 (ATP13A2) on chromosome 1p36.

Synonyms: autosomal recessive Parkinson disease 9, autosomal recessive juvenile onset Parkinson disease 9,

Echinobase Genes :


OMIM:
MIM:606693 - kufor-rakeb syndrome; krs

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): juvenile-onset Parkinson disease (is_a)