DISEASES

Disease-gene associations mined from literature

Human genes for Omenn syndrome

Omenn syndrome [DOID:0060010]

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.

Synonyms:  Omenn syndrome,  DOID:0060010,  Omenn disease,  Omenn disorder,  combined immunodeficiency with hypereosinophilia

Linkouts:  OMIM