OBO ID: DOID:0110781
Term Name: hereditary spastic paraplegia 30 Search Ontology:
Synonyms:
  • autosomal recessive spastic paraplegia 30
  • autosomal spastic paraplegia type 30
  • SPG30
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/21487076
References:
Ontology: Human Disease   (DOID:0110781)
OTHER hereditary spastic paraplegia 30 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KIF1A Spastic paraplegia 30, autosomal dominant 610357
Spastic paraplegia 30, autosomal recessive 610357
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None