| Metadata | |
|---|---|
| ID | DOID:0070641 |
| Name | hereditary spastic paraplegia 18B |
| Definition | A hereditary spastic paraplegia 18 that has_material_basis_in homozygous mutation in the ERLIN2 gene on chromosome 8p11. https://pubmed.ncbi.nlm.nih.gov/21330303/, https://pubmed.ncbi.nlm.nih.gov/21796390/ |
| Xrefs | |
| SKOS |
exactMatch MIM:611225 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive spastic paraplegia 18 [EXACT] autosomal recessive spastic paraplegia type 18 [EXACT] IDMDC [EXACT] intellectual disability, motor dysfunction and joint contractures [EXACT] spastic paraplegia 18B [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |