Neuroacanthocytosis
Disease ID: disease_node_11953
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| Dbxref | GARD:3956, MESH:D054546, MIM:200150, NCI:C84926, ORDO:2388, SNOMEDCT_US_2023_03_01:26848004, UMLS_CUI:C0393576 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050765 |
| Data Source | DOID, MESH |
| Synonyms | Levine-Critchley syndrome, choreo-acanthocytosis |
| Mesh Id | D054546 |
| Mesh Label | Neuroacanthocytosis |
| Mesh Subclassof | D002819, D020271 |
| Doid Label | choreaacanthocytosis |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_11953 |
| Doid Id | DOID_0050766 |
| Label | Neuroacanthocytosis |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)