Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
immune system
|
| gptkbp:alsoKnownAs |
gptkb:IMD18
|
| gptkbp:associatedWith |
Epstein-Barr virus susceptibility
|
| gptkbp:firstDescribed |
2013
|
| gptkbp:hasPhenotype |
impaired T cell function
impaired B cell function |
| https://www.w3.org/2000/01/rdf-schema#label |
Immunodeficiency 18
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:CD27_gene
|
| gptkbp:OMIM |
615594
|
| gptkbp:symptom |
recurrent infections
hypogammaglobulinemia lymphoproliferation |
| gptkbp:bfsParent |
gptkb:CD3E
|
| gptkbp:bfsLayer |
7
|