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amyotrophic lateral sclerosis type 5
Summary
- Synonym
-
- ALS5
- amyotrophic lateral sclerosis 5
- Definition
- An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21.
- Super Class
- amyotrophic lateral sclerosis
External Links
- Disease Ontology
- DOID:0060197
- Mondo Disease Ontology
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0001324 | Muscle weakness |
| HP:0001332 | Dystonia |
| HP:0001348 | Brisk reflexes |
| HP:0002015 | Dysphagia |
| HP:0002061 | Lower limb spasticity |
| HP:0002072 | Chorea |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002169 | Clonus |
| HP:0002179 | Opisthotonus |
