About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
MGI 6.22
The Jackson Laboratory