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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:0002493 | Upper motor neuron dysfunction |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0006892 | Frontotemporal cerebral atrophy |
| HP:0010522 | Dyslexia |
| HP:0010526 | Dysgraphia |
| HP:0010529 | Echolalia |
| HP:0011204 | EEG with continuous slow activity |
| HP:0012658 | Abnormal brain FDG positron emission tomography |
| HP:0012671 | Abulia |
| HP:0000508 | Ptosis |
