OBO ID: DOID:0110771
Term Name: hereditary spastic paraplegia 18 Search Ontology:
Synonyms:
  • autosomal recessive spastic paraplegia 18
  • autosomal recessive spastic paraplegia type 18
  • IDMDC
  • intellectual disability, motor dysfunction and joint contractures
  • SPG18
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11. https://www.ncbi.nlm.nih.gov/pubmed/21330303
References:
Ontology: Human Disease   (DOID:0110771)
OTHER hereditary spastic paraplegia 18 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ERLIN2 Spastic paraplegia 18, autosomal recessive 611225
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None