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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:0003429 | CNS hypomyelination |
| HP:0003693 | Distal amyotrophy |
| HP:0003701 | Proximal muscle weakness |
| HP:0003722 | Neck flexor weakness |
| HP:0004326 | Cachexia |
| HP:0005750 | Lower-limb joint contracture |
| HP:0006986 | Upper limb spasticity |
| HP:0007354 | Amyotrophic lateral sclerosis |
| HP:0011471 | Gastrostomy tube feeding in infancy |
| HP:0012048 | Oromandibular dystonia |
