Spinocerebellar Ataxia With Axonal Neuropathy Type 3
Disease ID: disease_node_16022
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| Dbxref | MIM:618387 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Synonyms | SCAN3, autosomal recessive spinocerebellar ataxia with axonal neuropathy 3, spinocerebellar ataxia with axonal neuropathy 3 |
| Doid Label | spinocerebellar ataxia with axonal neuropathy type 3 |
| Doid Description | An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3. |
| Disease Node Id | disease_node_16022 |
| Doid Id | DOID_0070465 |
| Label | Spinocerebellar Ataxia With Axonal Neuropathy Type 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)