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amyotrophic lateral sclerosis type 18
Summary
- Synonym
-
- ALS18
- amyotrophic lateral sclerosis 18
- Definition
- An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17.
- Super Class
- amyotrophic lateral sclerosis
External Links
- Disease Ontology
- DOID:0060209
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001260 | Dysarthria |
| HP:0002380 | Fasciculations |
| HP:0000713 | Agitation |
| HP:0002094 | Dyspnea |
| HP:0000708 | Atypical behavior |
| HP:0002015 | Dysphagia |
| HP:0002180 | Neurodegeneration |
| HP:0000739 | Anxiety |
| HP:0000217 | Xerostomia |
| HP:0001347 | Hyperreflexia |
