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Disease Ontology Browser
choreaacanthocytosis (DOID:0050766)
Alliance: disease page
Synonyms: choreo-acanthocytosis; Levine-Critchley syndrome
Alt IDs: OMIM:200150, MESH:D054546, NCI:C84926, ORDO:2388, UMLS_CUI:C0393576
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory