| Metadata | |
|---|---|
| ID | DOID:0110781 |
| Name | hereditary spastic paraplegia 30 |
| Definition | A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37. https://pubmed.ncbi.nlm.nih.gov/31488895/, https://www.ncbi.nlm.nih.gov/pubmed/21487076 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant spastic paraplegia 30 [NARROW] autosomal recessive spastic paraplegia 30 [NARROW] autosomal spastic paraplegia type 30 [EXACT] SPG30 [EXACT] |
| Parent Relationships |