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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0003324 | Generalized muscle weakness |
| HP:0003394 | Muscle spasm |
| HP:0003470 | Paralysis |
| HP:0003484 | Upper limb muscle weakness |
| HP:0003487 | Babinski sign |
| HP:0004326 | Cachexia |
| HP:0007340 | Lower limb muscle weakness |
| HP:0007354 | Amyotrophic lateral sclerosis |
| HP:0007373 | Motor neuron atrophy |
| HP:0008955 | Progressive distal muscular atrophy |
