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Summary Literature (0)
DOID:0060010 - Omenn syndrome


Disease Ontology 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.

Synonyms: combined immunodeficiency with hypereosinophilia

In OMIM:
OMIM:603554 - OMENN SYNDROME

In Mondo Disease Ontology:
MONDO:0011338 - Omenn syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : il7r, il2rg, chd7, ada, dclre1c, lig4, rag2, ada.2, rag1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): severe combined immunodeficiency (is_a)