| Metadata | |
|---|---|
| ID | DOID:0070640 |
| Name | hereditary spastic paraplegia 18A |
| Definition | A hereditary spastic paraplegia 18 that has_material_basis_in heterozygous mutation in the ERLIN2 gene on chromosome 8p11. https://pubmed.ncbi.nlm.nih.gov/29528531/, https://pubmed.ncbi.nlm.nih.gov/32094424/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620512 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant spastic paraplegia 18 [EXACT] spastic paraplegia 18A [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |