| Metadata | |
|---|---|
| ID | DOID:0110810 |
| Name | hereditary spastic paraplegia 5A |
| Definition | A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12. https://www.ncbi.nlm.nih.gov/pubmed/18252231 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive spastic paraplegia 5A [EXACT] autosomal recessive spastic paraplegia type 5A [EXACT] SPG5A [EXACT] |
| Parent Relationships |