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Metadata
ID DOID:0110795
Name hereditary spastic paraplegia 43
Definition A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12.
https://www.ncbi.nlm.nih.gov/pubmed/23857908
Xrefs

ICD10CM:G11.4

MIM:615043

ORDO:320370

Subsets

DO_rare_slim

Synonyms

autosomal recessive spastic paraplegia 43 [EXACT]

autosomal recessive spastic paraplegia type 43 [EXACT]

SPG43 [EXACT]

Parent Relationships

is_a hereditary spastic paraplegia

is_a autosomal recessive disease

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