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Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Summary
- Synonym
-
- ALS14
- amyotrophic lateral sclerosis 14
- amyotrophic lateral sclerosis type 14
- amyotrophic lateral sclerosis, with or without frontotemporal dementia
- Definition
- An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13.
- Super Class
- amyotrophic lateral sclerosis
External Links
- Disease Ontology
- DOID:0060205
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008994 | Proximal muscle weakness in lower limbs |
| HP:0002061 | Lower limb spasticity |
| HP:0003444 | EMG: chronic denervation signs |
| HP:0011448 | Ankle clonus |
| HP:0001348 | Brisk reflexes |
| HP:0000751 | Personality changes |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0002355 | Difficulty walking |
