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Human Disease

Omenn syndrome

Term ID
DOID:0060010
Synonyms
  • combined immunodeficiency with hypereosinophilia
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. (3)
References
Ontology
Human Disease   ( DOID:0060010 )
Relationships
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Genes Involved
Zebrafish Models
Citations