WormBase Tree Display for DO_term: DOID:0060491
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| DOID:0060491 | Name | SPOAN syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2. | ||||
| Synonym | Exact | spastic paraplegia, optic atropy, and neuropathy syndrome | |||
| spastic paraplegia, optic atropy, and neuropathy | |||||
| Parent | Is_a | DOID:1289 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 609541 | |
| Attribute_of | Gene_by_orthology | WBGene00002215 |
