Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
recurrent infections
impaired immune response |
| https://www.w3.org/2000/01/rdf-schema#label |
immunodeficiency 18
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_12p13.31
|
| gptkbp:mutationAssociatedWith |
gptkb:CD27_gene
|
| gptkbp:OMIM |
615577
|
| gptkbp:symptom |
herpesvirus infections
hypogammaglobulinemia lymphoproliferation |
| gptkbp:bfsParent |
gptkb:CD3E_gene
|
| gptkbp:bfsLayer |
7
|