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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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;   NCI:C61240
For additional species annotation, visit the Alliance of Genome Resources.



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Omenn syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1c DNA cross-link repair 1C ISO OMIM NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
JBrowse link
G Rag1 recombination activating 1 ISO OMIM NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
JBrowse link
G Rag2 recombination activating 2 ISO OMIM
RGD
PMID:9630231 RGD:1599403 NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Omenn syndrome 3
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Immune & Inflammatory Diseases 4036
        immune system disease 3398
          primary immunodeficiency disease 2723
            combined immunodeficiency 182
              severe combined immunodeficiency 118
                Omenn syndrome 3
paths to the root