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Metadata
ID DOID:0110792
Name hereditary spastic paraplegia 4
Definition A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22.
https://www.ncbi.nlm.nih.gov/pubmed/9302257
Xrefs

ICD10CM:G11.4

OMIM:182601

ORDO:100985

Subsets

DO_rare_slim

Synonyms

autosomal dominant spastic paraplegia 4 [EXACT]

autosomal dominant spastic paraplegia type 4 [EXACT]

SPG4 [EXACT]

Parent Relationships

is_a hereditary spastic paraplegia

is_a autosomal dominant disease

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