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
(all 7)
Ontology
Human Disease   ( DOID:0050766 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.