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amyotrophic lateral sclerosis type 11
Summary
- Synonym
-
- ALS11
- amyotrophic lateral sclerosis 11
- Definition
- An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6.
- Super Class
- amyotrophic lateral sclerosis
External Links
- Disease Ontology
- DOID:0060202
- Mondo Disease Ontology
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q92562 | Polyphosphoinositide phosphatase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000217 | Xerostomia |
| HP:0000708 | Atypical behavior |
| HP:0000712 | Emotional lability |
| HP:0000713 | Agitation |
| HP:0000716 | Depression |
| HP:0000739 | Anxiety |
| HP:0001257 | Spasticity |
| HP:0001260 | Dysarthria |
| HP:0001347 | Hyperreflexia |
| HP:0002015 | Dysphagia |
