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Metadata
ID DOID:0110804
Name hereditary spastic paraplegia 52
Definition A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12.
https://www.ncbi.nlm.nih.gov/pubmed/21620353
Xrefs

OMIM:614067

ORDO:280763

Subsets

DO_rare_slim

Synonyms

autosomal recessive spastic paraplegia 52 [EXACT]

CPSQ6 [EXACT]

spastic quadriplegic cerebral palsy 6 [EXACT]

SPG52 [EXACT]

Parent Relationships

is_a hereditary spastic paraplegia

is_a autosomal recessive disease

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