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| Term | choreaacanthocytosis | ID (Ontology) | DOID:0050766 (Human Disease) |
| 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. | ||
| Also Known As | "choreo-acanthocytosis" ; "Levine-Critchley syndrome" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ neurodegenerative disease | |__neuroacanthocytosis__________| choreaacanthocytosis 5 rec. |
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| Is a |
autosomal recessive disease neuroacanthocytosis |
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External Crossreferences & Linkouts
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GARD:3956 MESH:D054546 MIM:200150 NCI:C84926 ORDO:2388 SNOMEDCT_US_2023_03_01:26848004 UMLS_CUI:C0393576 |
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