Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
OMIM entry
|
| gptkbp:alternativeName |
gptkb:ALS1
Amyotrophic Lateral Sclerosis, Familial, 1 |
| gptkbp:containsGene |
gptkb:SOD1
|
| gptkbp:hasMIMNumber |
607709
|
| gptkbp:hasPhenotype |
respiratory failure
muscle atrophy spasticity fasciculations dysphagia progressive muscle weakness dysarthria |
| https://www.w3.org/2000/01/rdf-schema#label |
OMIM:607709
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:locatedOnChromosome |
gptkb:21q22.11
|
| gptkbp:onset |
adult
juvenile |
| gptkbp:referencedIn |
https://www.omim.org/entry/607709
|
| gptkbp:title |
Amyotrophic Lateral Sclerosis 1
|
| gptkbp:bfsParent |
gptkb:Epithelioid_Hemangioendothelioma
|
| gptkbp:bfsLayer |
7
|