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Metadata
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

GARD:4219

ICD10CM:G11.4

OMIM:270685

ORDO:100998

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

is_a hereditary spastic paraplegia

is_a autosomal dominant disease

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