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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
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Summary
- Synonym
-
- FTDALS3
- Definition
- An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SQSTM1 gene on chromosome 5q35.
- Super Class
- amyotrophic lateral sclerosis
External Links
- Disease Ontology
- DOID:0110068
- Mondo Disease Ontology
- OMIM
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 |
