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| Term | Omenn syndrome | ID (Ontology) | DOID:0060010 (Human Disease) |
| 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. | ||
| Also Known As | "combined immunodeficiency with hypereosinophilia" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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combined immunodeficiency |__severe combined immunodeficiency |__Omenn syndrome |
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| Is a | severe combined immunodeficiency | ||
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GARD:8198 ICD10CM:D81.8 MIM:603554 |
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