OBO ID: DOID:0110806
Term Name: hereditary spastic paraplegia 54 Search Ontology:
Synonyms:
  • autosomal recessive spastic paraplegia 54
  • autosomal recessive spastic paraplegia type 54
  • SPG54
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11. https://www.ncbi.nlm.nih.gov/pubmed/23176823
References:
Ontology: Human Disease   (DOID:0110806)
OTHER hereditary spastic paraplegia 54 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DDHD2 Spastic paraplegia 54, autosomal recessive 615033
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None