Search Ontology:
Human Disease

choreaacanthocytosis

Term ID
DOID:0050766
Synonyms
  • choreo-acanthocytosis
  • Levine-Critchley syndrome
Definition
A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21. (3)
References
Ontology
Human Disease   ( DOID:0050766 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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