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Term:Omenn syndrome
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Accession:DOID:0060010 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Omenn's syndrome;   Omenns syndrome;   combined immunodeficiency with hypereosinophilia;   familial reticuloendotheliosis, with eosinophilia;   severe combined immunodeficiency with hypereosinophilia
 primary_id: MESH:C538564
 alt_id: OMIM:603554
 xref: GARD:8198;   ICD10CM:D81.8
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Omenn syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1c DNA cross-link repair 1C JBrowse link 17 78,782,512 78,812,140 RGD:7240710
G Rag1 recombination activating 1 JBrowse link 3 91,206,394 91,217,491 RGD:7240710
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:1599403

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    syndrome 6141
      Omenn syndrome 3
Path 2
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  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        genetic disease 7652
          monogenic disease 5403
            X-linked monogenic disease 924
              combined T cell and B cell immunodeficiency 73
                severe combined immunodeficiency 52
                  Omenn syndrome 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.