Term Name: | hereditary spastic paraplegia 48 |
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Synonyms: | autosomal recessive spastic paraplegia 48, autosomal recessive spastic paraplegia type 48, SPG48 |
Definition: | A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1. |
Ontology: | Human Disease [DOID:0110800] ( DOID:0110800 ) |