Terminology Service for NFDI4Health

hereditary spastic paraplegia 39

Go to external page http://purl.obolibrary.org/obo/DOID_0110790


A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

hereditary spastic paraplegia 39

Synonyms
  • NTE-related motor neuron disorder
  • NTEMND
  • SPG39
  • autosomal recessive spastic paraplegia 39
  • autosomal recessive spastic paraplegia type 39
  • spastic paraplegia due to NTE mutation
  • spastic paraplegia due to neuropathy target esterase mutation
database cross reference
has obo namespace

disease_ontology

id

DOID:0110790