hereditary spastic paraplegia 48

Term ID

DOID:0110800

Synonyms

autosomal recessive spastic paraplegia 48
autosomal recessive spastic paraplegia type 48
SPG48

Definition

A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1. https://www.ncbi.nlm.nih.gov/pubmed/20613862

References

ICD10CM:G11.4
OMIM:613647
ORDO:306511

Ontology

Human Disease ( DOID:0110800 )

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

Citations