Metadata | |
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ID | DOID:0110770 |
Name | hereditary spastic paraplegia 17 |
Definition | A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12. https://www.ncbi.nlm.nih.gov/pubmed/14981520 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
autosomal dominant spastic paraplegia 17 [EXACT] autosomal dominant spastic paraplegia type 17 [EXACT] dHMN5B [EXACT] distal hereditary motor neuropathy type 5B [EXACT] Silver spastic paraplegia syndrome [EXACT] Silver syndrome [EXACT] spastic paraplegia with amyotrophy of hands and feet [EXACT] spastic paraplegia-amyotrophy of hands and feet [EXACT] SPG17 [EXACT] |
Parent Relationships |