Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0050766 - choreaacanthocytosis

Disease Ontology 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.

Synonyms: choreo-acanthocytosis, choreoacanthocytosis, Levine-Critchley syndrome

Xenbase Genes : vps13a

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008695 - chorea-acanthocytosis


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), neuroacanthocytosis (is_a)