hereditary spastic paraplegia 43

Term ID

DOID:0110795

Synonyms

• autosomal recessive spastic paraplegia 43
• autosomal recessive spastic paraplegia type 43
• SPG43

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

References

• ICD10CM:G11.4
• OMIM:615043
• ORDO:320370

Ontology

Human Disease   ( DOID:0110795 )