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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 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:0002283 | Global brain atrophy |
| HP:0002314 | Degeneration of the lateral corticospinal tracts |
| HP:0002366 | Abnormal lower motor neuron morphology |
| HP:0002385 | Paraparesis |
| HP:0002460 | Distal muscle weakness |
| HP:0003700 | Generalized amyotrophy |
| HP:0003701 | Proximal muscle weakness |
| HP:0007190 | Neuronal loss in the cerebral cortex |
| HP:0008322 | Abnormal mitochondrial morphology |
| HP:0008619 | Bilateral sensorineural hearing impairment |
