Giant Axonal Neuropathy
Disease ID: disease_node_12285
Connections displayed (default: 10).
Loading graph...
| Dbxref | MESH:D056768, MIM:256850, ORDO:643 |
|---|---|
| Subclassof | DOID_0050737, DOID_7319 |
| Data Source | DOID, MESH |
| Mesh Id | D056768 |
| Mesh Label | Giant Axonal Neuropathy |
| Mesh Subclassof | D015417, D010523 |
| Doid Label | giant axonal neuropathy 1 |
| Doid Description | An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_12285 |
| Doid Id | DOID_0090068 |
| Label | Giant Axonal Neuropathy |
- Outgoing r'ship
SUBCLASS_OFto/from Axonal Neuropathy(ID:disease_node_13535) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)