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amyotrophic lateral sclerosis type 8
Summary
- Synonym
-
- ALS8
- amyotrophic lateral sclerosis 8
- Definition
- An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20.
- Super Class
- amyotrophic lateral sclerosis
External Links
- Disease Ontology
- DOID:0050752
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007373 | Motor neuron atrophy |
| HP:0002878 | Respiratory failure |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0003470 | Paralysis |
| HP:0012531 | Pain |
| HP:0007340 | Lower limb muscle weakness |
| HP:0002795 | Abnormal respiratory system physiology |
| HP:0008955 | Progressive distal muscular atrophy |
| HP:0003394 | Muscle spasm |
| HP:0012473 | Tongue atrophy |
