Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:immunodeficiency |
| gptkbp:affects |
immune system
|
| gptkbp:category |
gptkb:genetic_disorder
gptkb:immunodeficiency |
| gptkbp:firstDescribed |
gptkb:G._S._Omenn
1965 |
| gptkbp:hasOrphanetID |
ORPHA:2827
|
| gptkbp:ICD-10_code |
D81.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D020164
|
| gptkbp:mutationAssociatedWith |
gptkb:IL7R_gene
gptkb:RAG1_gene gptkb:RAG2_gene |
| gptkbp:OMIM |
603554
|
| gptkbp:symptom |
alopecia
failure to thrive hepatosplenomegaly lymphadenopathy recurrent infections eosinophilia chronic diarrhea elevated IgE erythroderma |
| gptkbp:treatment |
immunosuppressive therapy
hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:Gilbert_S._Omenn
|
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
Omenn syndrome
|