Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
motor neurons
|
| gptkbp:alsoKnownAs |
gptkb:ALS1
|
| gptkbp:associatedWith |
gptkb:Amyotrophic_lateral_sclerosis
gptkb:SOD1 |
| gptkbp:firstDescribed |
1993
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
ALS type 1
|
| gptkbp:ICD-10_code |
G12.21
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:SOD1_gene
|
| gptkbp:OMIM |
105400
|
| gptkbp:onset |
adult
|
| gptkbp:progression |
progressive
|
| gptkbp:symptom |
muscle atrophy
muscle weakness fasciculations |
| gptkbp:bfsParent |
gptkb:SOD-1
|
| gptkbp:bfsLayer |
6
|