hereditary spastic paraplegia 56

Term ID

DOID:0110808

Synonyms

• autosomal recessive spastic paraplegia 56
• autosomal recessive spastic paraplegia type 56
• SPG56

Definition

A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25. https://www.ncbi.nlm.nih.gov/pubmed/23176821

References

• ICD10CM:G11.4
• OMIM:615030
• ORDO:320411

Ontology

Human Disease   ( DOID:0110808 )