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DO Term : Kufor-Rakeb syndrome [DOID:0060556] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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 Parkinson disease 9,
MESH:C537177,
UMLS_CUI:C1847640,
SNOMEDCT_US_2023_03_01:723992000,
ORDO:306674,
autosomal recessive juvenile onset Parkinson disease 9,
OMIM:606693,
606693

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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