| Metadata | |
|---|---|
| ID | DOID:0070645 |
| Name | hereditary 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/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620938 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive spastic paraplegia 93 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |