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DOID:0050766 - chorea-acanthocytosis
Disease Ontology Definition:A neuroacanthocytosis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21; it is characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life.
Synonyms: Levine-Critchley syndrome, choreoacanthocytosis,
Echinobase Genes :
MIM:200150 - choreoacanthocytosis; chac |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
neuroacanthocytosis (is_a)