Term Name: | hereditary spastic paraplegia 5A |
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Synonyms: | autosomal recessive spastic paraplegia 5A, autosomal recessive spastic paraplegia type 5A, SPG5A |
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. |
Ontology: | Human Disease [DOID:0110810] ( DOID:0110810 ) |