Terminology Service for NFDI4Health

hereditary spastic paraplegia 47

Go to external page http://purl.obolibrary.org/obo/DOID_0110799


A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

hereditary spastic paraplegia 47

Synonyms
  • CPSQ5
  • SPG47
  • autosomal recessive spastic paraplegia 47
  • spastic quadriplegic cerebral palsy 5
database cross reference
has obo namespace

disease_ontology

id

DOID:0110799