Terminology Service for NFDI4Health

hereditary spastic paraplegia 50

Go to external page http://purl.obolibrary.org/obo/DOID_0110802


A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

hereditary spastic paraplegia 50

Synonyms
  • CPSQ3
  • SPG50
  • autosomal recessive spastic paraplegia 50
  • spastic quadriplegic cerebral palsy 3
database cross reference
has obo namespace

disease_ontology

id

DOID:0110802