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Omenn syndrome
Summary
- Synonym
-
- combined immunodeficiency with hypereosinophilia
- Definition
- A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly.
- Super Class
- severe combined immunodeficiency
External Links
- Disease Ontology
- DOID:0060010
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
