header logo image header logo text
Downloads Login
Research
General Information
ZIRC
OBO ID: DOID:0110794
Term Name: hereditary spastic paraplegia 42 Search Ontology:
Synonyms:
  • autosomal dominant spastic paraplegia 42
  • autosomal dominant spastic paraplegia type 42
  • SPG42
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31.https://www.ncbi.nlm.nih.gov/pubmed/19061983
References:
Ontology: Human Disease   (DOID:0110794)
OTHER hereditary spastic paraplegia 42 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC33A1 Spastic paraplegia 42, autosomal dominant 612539
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None