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Metadata
ID DOID:0110811
Name hereditary spastic paraplegia 6
Definition A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2.
https://www.ncbi.nlm.nih.gov/pubmed/14508710
Xrefs

ICD10CM:G11.4

MIM:600363

ORDO:100988

Subsets

DO_rare_slim

Synonyms

autosomal dominant familial spastic paraplegia type 3 [EXACT]

autosomal dominant spastic paraplegia 6 [EXACT]

autosomal dominant spastic paraplegia type 6 [EXACT]

FSP3 [EXACT]

SPG6 [EXACT]

Parent Relationships

is_a hereditary spastic paraplegia

is_a autosomal dominant disease

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