| Metadata | |
|---|---|
| ID | DOID:0050766 |
| Name | choreaacanthocytosis |
| 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. https://en.wikipedia.org/wiki/Chorea_acanthocytosis, https://ghr.nlm.nih.gov/condition/chorea-acanthocytosis, https://www.ncbi.nlm.nih.gov/pubmed/9382101 |
| Xrefs |
SNOMEDCT_US_2023_03_01:26848004 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
choreo-acanthocytosis [EXACT] Levine-Critchley syndrome [EXACT] |
| Parent Relationships |
is_a neuroacanthocytosis |