Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
immunodeficiency
rare disease |
| gptkbp:affects |
gastrointestinal tract
immune system |
| gptkbp:alsoKnownAs |
complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy syndrome
CD55-deficiency |
| gptkbp:causedBy |
mutations in CD55 gene
|
| gptkbp:complication |
malnutrition
growth retardation |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2017
|
| https://www.w3.org/2000/01/rdf-schema#label |
CHAPLE syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
226300
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:symptom |
edema
thrombosis recurrent infections protein-losing enteropathy |
| gptkbp:treatment |
gptkb:eculizumab
|
| gptkbp:bfsParent |
gptkb:CD55
|
| gptkbp:bfsLayer |
7
|