| Metadata | |
|---|---|
| ID | DOID:0060010 |
| Name | Omenn syndrome |
| 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. https://en.wikipedia.org/wiki/Omenn_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/11213808, https://www.ncbi.nlm.nih.gov/pubmed/14328107 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
combined immunodeficiency with hypereosinophilia [EXACT] |
| Parent Relationships |