| Metadata | |
|---|---|
| ID | DOID:0110800 |
| Name | hereditary spastic paraplegia 48 |
| Definition | A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1. https://www.ncbi.nlm.nih.gov/pubmed/20613862 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive spastic paraplegia 48 [EXACT] autosomal recessive spastic paraplegia type 48 [EXACT] SPG48 [EXACT] |
| Parent Relationships |