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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;   RDO:0004503
 xref: GARD:8198;   ICD10CM:D81.8
For additional species annotation, visit the Alliance of Genome Resources.

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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
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  disease 15602
    syndrome 5231
      Omenn syndrome 3
Path 2
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  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          monogenic disease 4712
            X-linked monogenic disease 857
              combined T cell and B cell immunodeficiency 66
                severe combined immunodeficiency 51
                  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.