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
|OMIM:603554 - OMENN SYNDROME|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : dclre1c, rag2, rag1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): severe combined immunodeficiency (is_a)