Giant Axonal Neuropathy 2
Disease ID: disease_node_13536
Connections displayed (default: 10).
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| Dbxref | MIM:610100 |
|---|---|
| Subclassof | DOID_0050736, DOID_7319 |
| Data Source | DOID |
| Doid Label | giant axonal neuropathy 2 |
| Doid Description | An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal domit inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_13536 |
| Doid Id | DOID_0090069 |
| Label | Giant Axonal Neuropathy 2 |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Axonal Neuropathy(ID:disease_node_13535) (Disease)