Search Ontology:
Human Disease

hereditary spastic paraplegia 93

Term ID
DOID:0070645
Synonyms
  • autosomal recessive spastic paraplegia 93
Definition
A hereditary spastic paraplegia that has_material_basis_in homozygous or compound heterozygous mutation in the NFU1 gene on chromosome 2p13. https://pubmed.ncbi.nlm.nih.gov/36256512/
References
Ontology
Human Disease   ( DOID:0070645 )
Relationships
Other Pages
Genes Involved
Zebrafish Models