Kufor-Rakeb syndrome

Summary

DOID:0060556 - Kufor-Rakeb syndrome

Disease Ontology 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.

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: atp13a2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011706 - Kufor-Rakeb syndrome

MONDO:0011706 - Kufor-Rakeb syndrome

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), early-onset Parkinson's disease (is_a), juvenile-onset Parkinson disease (is_a)