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Browse result for Omenn syndrome

※ introduction

    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.

Reference
DiseaseOntology: Omenn syndrome


PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD04256P159185896
RAG1
VJ recombination-activating protein 1 [Includes: Endonuclease RAG1 ; E3 ubiquitin-protein ligase RAG1 ]
Homo sapiens