hereditary spastic paraplegia 54

Term ID

DOID:0110806

Synonyms

autosomal recessive spastic paraplegia 54
autosomal recessive spastic paraplegia type 54
SPG54

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

References

ICD10CM:G11.4
MIM:615033
ORDO:320380

Ontology

Human Disease ( DOID:0110806 )

Relationships

is a type of: autosomal recessive disease hereditary spastic paraplegia

autosomal recessive disease hereditary spastic paraplegia Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models