OBO ID: DOID:0050766 |
Term Name: | choreaacanthocytosis | Search Ontology: | |
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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. (3) | ||
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Ontology: | Human Disease ( DOID:0050766 ) |
OTHER choreaacanthocytosis PAGES
ZEBRAFISH MODELS
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PHENOTYPE
No data available
CITATIONS: None
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