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Metadata
ID DOID:0110808
Name hereditary spastic paraplegia 56
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
Xrefs

ICD10CM:G11.4

OMIM:615030

ORDO:320411

Subsets

DO_rare_slim

Synonyms

autosomal recessive spastic paraplegia 56 [EXACT]

autosomal recessive spastic paraplegia type 56 [EXACT]

SPG56 [EXACT]

Parent Relationships

is_a hereditary spastic paraplegia

is_a autosomal recessive disease

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