Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
immune system
|
| gptkbp:alternativeName |
Activated PI3K-delta syndrome 1
|
| https://www.w3.org/2000/01/rdf-schema#label |
immunodeficiency 52
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_1p36.22
|
| gptkbp:mutationAssociatedWith |
gptkb:PIK3CD_gene
|
| gptkbp:OMIM |
616452
|
| gptkbp:symptom |
autoimmunity
recurrent infections lymphoproliferation |
| gptkbp:bfsParent |
gptkb:LAT_(gene)
|
| gptkbp:bfsLayer |
7
|