WormBase Tree Display for DO_term: DOID:0050944
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| DOID:0050944 | Name | spastic ataxia 5 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11. | ||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0050952 | |||||
| DB_info | Database | OMIM | disease | 614487 | |
| Attribute_of | Gene_by_orthology | WBGene00004978 |
