OBO ID: DOID:0110811
Term Name: hereditary spastic paraplegia 6 Search Ontology:
Synonyms:
  • autosomal dominant familial spastic paraplegia type 3
  • autosomal dominant spastic paraplegia 6
  • autosomal dominant spastic paraplegia type 6
  • FSP3
  • SPG6
Definition: A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2. https://www.ncbi.nlm.nih.gov/pubmed/14508710
References:
Ontology: Human Disease   ( DOID:0110811 )
OTHER hereditary spastic paraplegia 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NIPA1 Spastic paraplegia 6, autosomal dominant 600363
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None