Visualize Submit Comment
Metadata
ID DOID:0110806
Name hereditary spastic paraplegia 54
Definition A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11.
https://www.ncbi.nlm.nih.gov/pubmed/23176823
Xrefs

ICD10CM:G11.4

OMIM:615033

ORDO:320380

Subsets

DO_rare_slim

Synonyms

autosomal recessive spastic paraplegia 54 [EXACT]

autosomal recessive spastic paraplegia type 54 [EXACT]

SPG54 [EXACT]

Parent Relationships

is_a hereditary spastic paraplegia

is_a autosomal recessive disease

Add an item to the term tracker