Search Ontology:
Human Disease
choreaacanthocytosis
- Term ID
- DOID:0050766
- Synonyms
-
- choreo-acanthocytosis
- Levine-Critchley syndrome
- 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)
- References
-
- GARD:3956
- MESH:D054546
- MIM:200150
- NCI:C84926
- ORDO:2388
- SNOMEDCT_US_2023_03_01:26848004
- UMLS_CUI:C0393576
- Ontology
- Human Disease ( DOID:0050766 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models