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hereditary spastic paraplegia 18
Summary
- Synonym
-
- IDMDC
- SPG18
- autosomal recessive spastic paraplegia 18
- autosomal recessive spastic paraplegia type 18
- intellectual disability, motor dysfunction and joint contractures
- Definition
- A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0110771
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 444675 | erlin2.S | ER lipid raft associated 2 S homeolog | Xenopus laevis (African clawed frog) | |
| 495100 | erlin2.L | ER lipid raft associated 2 L homeolog | Xenopus laevis (African clawed frog) | |
| 549473 | erlin2 | ER lipid raft associated 2 | Xenopus tropicalis (tropical clawed frog) |
