Hereditary spastic paraplegia 56

Definition

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene.

Also known as autosomal recessive spastic paraplegia type 56, CYP2U1 hereditary spastic paraplegia, hereditary spastic paraplegia caused by mutation in CYP2U1, hereditary spastic paraplegia type 56, SPG56 — per MONDO

Also identified as

• DOID 0110808 per MONDO
• OMIM 615030 per MONDO
• Orphanet 320411 per MONDO
• UMLS C3539507 per MONDO