OBO ID: DOID:0050766
Term Name: choreaacanthocytosis Search Ontology:
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)
OTHER choreaacanthocytosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
VPS13A Choreoacanthocytosis 200150
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None