Kufor-Rakeb syndrome

Term ID

DOID:0060556

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

• MESH:C537177
• OMIM:606693
• ORDO:306674
• SNOMEDCT_US_2023_03_01:723992000
• UMLS_CUI:C1847640

Ontology

Human Disease   ( DOID:0060556 )