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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,

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

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011338 - Omenn syndrome


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): severe combined immunodeficiency (is_a)