OBO ID: DOID:0110790
Term Name: hereditary spastic paraplegia 39 Search Ontology:
Synonyms:
  • autosomal recessive spastic paraplegia 39
  • autosomal recessive spastic paraplegia type 39
  • NTE-related motor neuron disorder
  • NTEMND
  • spastic paraplegia due to neuropathy target esterase mutation
  • spastic paraplegia due to NTE mutation
  • SPG39
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/18313024
References:
Ontology: Human Disease   (DOID:0110790)
OTHER hereditary spastic paraplegia 39 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PNPLA6 Spastic paraplegia 39, autosomal recessive 612020
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None