hereditary spastic paraplegia 42

Term ID

DOID:0110794

Synonyms

• autosomal dominant spastic paraplegia 42
• autosomal dominant spastic paraplegia type 42
• SPG42

Definition

A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31. https://www.ncbi.nlm.nih.gov/pubmed/19061983

References

• ICD10CM:G11.4
• OMIM:612539
• ORDO:171863

Ontology

Human Disease   ( DOID:0110794 )