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Disease Ontology Browser
chorea-acanthocytosis (DOID:0050766)
Synonyms: choreoacanthocytosis; Levine-Critchley syndrome
Alt IDs: OMIM:200150, ICD10CM:E78.6, ORDO:2388, UMLS_CUI:C0393576
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/20/2017
MGI 6.10
The Jackson Laboratory