Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
immune system
|
| gptkbp:hasOrphanetID |
gptkb:ORPHA:404989
|
| https://www.w3.org/2000/01/rdf-schema#label |
immunodeficiency 14
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:TRAC_gene
|
| gptkbp:OMIM |
615957
|
| gptkbp:symptom |
gptkb:lymphopenia
failure to thrive recurrent infections |
| gptkbp:bfsParent |
gptkb:O00329_(PIK3CD)
gptkb:PIK3CD |
| gptkbp:bfsLayer |
5
|