FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Kufor-Rakeb syndrome ID (Ontology) DOID:0060556 (Human Disease)
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.
Also Known As "autosomal recessive juvenile onset Parkinson disease 9" ; "autosomal recessive Parkinson disease 9"
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DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       8
Human Disease Models (FBhh)  DOID       1
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 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 Kufor-Rakeb syndrome       8      3      1
 ameliorates | Kufor-Rakeb syndrome       1       --       --
 exacerbates | Kufor-Rakeb syndrome       3       --       --
 for disease ribbon | Kufor-Rakeb syndrome       --       1       --
 model of | Kufor-Rakeb syndrome       4      1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease______
Parkinson's disease                  |
 |__early-onset Parkinson's disease__|
                                     Kufor-Rakeb syndrome  12 rec.
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Is a autosomal recessive disease
early-onset Parkinson's disease
Part of
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Synonyms
  • "autosomal recessive juvenile onset Parkinson disease 9" EXACT
    "autosomal recessive Parkinson disease 9" EXACT
Secondary IDs
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MESH:C537177
MIM:606693
ORDO:306674
SNOMEDCT_US_2023_03_01:723992000
UMLS_CUI:C1847640