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Repository for lectin-assisted multimodality data
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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:0002300 | Mutism |
| HP:0003700 | Generalized amyotrophy |
| HP:0002071 | Abnormality of extrapyramidal motor function |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003596 | Middle age onset |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0001324 | Muscle weakness |
| HP:0008997 | Proximal muscle weakness in upper limbs |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0003690 | Limb muscle weakness |
