Terminology Service for NFDI4Health
JSON

hereditary spastic paraplegia 48

Go to external page http://purl.obolibrary.org/obo/DOID_0110800

A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

hereditary spastic paraplegia 48

Synonyms
  • SPG48
  • autosomal recessive spastic paraplegia 48
  • autosomal recessive spastic paraplegia type 48
database cross reference
has obo namespace

disease_ontology

id

DOID:0110800