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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 (1)

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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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory