hereditary spastic paraplegia 17

Term ID

DOID:0110770

Synonyms

• autosomal dominant spastic paraplegia 17
• autosomal dominant spastic paraplegia type 17
• dHMN5B
• distal hereditary motor neuropathy type 5B
• Silver spastic paraplegia syndrome
• Silver syndrome
• spastic paraplegia with amyotrophy of hands and feet
• spastic paraplegia-amyotrophy of hands and feet
• SPG17

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

References

• GARD:4219
• ICD10CM:G11.4
• OMIM:270685
• ORDO:100998

Ontology

Human Disease   ( DOID:0110770 )