ONTOLOGY REPORT - ANNOTATIONS


Term:Omenn syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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
RGD:8554872
G Rag1 recombination activating 1 JBrowse link 3 91,206,394 91,217,491 RGD:7240710
RGD:8554872
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:1599403
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Omenn syndrome 3
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            X-linked monogenic disease 490
              combined T cell and B cell immunodeficiency 68
                severe combined immunodeficiency 53
                  Omenn syndrome 3
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.