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amyotrophic lateral sclerosis type 24
Summary
- Definition
- An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the NEK1 gene on chromosome 4q33.
- Super Class
- amyotrophic lateral sclerosis autosomal dominant disease
External Links
- Disease Ontology
- DOID:0081378
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004326 | Cachexia |
| HP:0100543 | Cognitive impairment |
| HP:0003484 | Upper limb muscle weakness |
| HP:0009067 | Progressive spinal muscular atrophy |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0007354 | Amyotrophic lateral sclerosis |
