OBO ID: DOID:0112348
Term Name: hereditary spastic paraplegia 78 Search Ontology:
Synonyms:
  • spastic paraplegia 78 autosomal recessive
  • SPG78
Definition: A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in ATP13A2 on chromosome 1p36.13. https://pubmed.ncbi.nlm.nih.gov/28137957/
References:
Ontology: Human Disease   (DOID:0112348)
OTHER hereditary spastic paraplegia 78 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATP13A2 Spastic paraplegia 78, autosomal recessive 617225
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None