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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: MIM:603554
 xref: GARD:8198;   ICD10CM:D81.8;   NCI:C61240

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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 ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 9:14,929,221...14,974,791
Ensembl chr 9:14,929,317...14,965,443 		JBrowse link
G IL7R interleukin 7 receptor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia ClinVar PMID:21664875 PMID:25741868 PMID:26123418 PMID:28492532 NCBI chr 4:34,701,724...34,724,241
Ensembl chr 4:34,701,531...34,721,361 		JBrowse link
G RAG1 recombination activating 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia OMIM
ClinVar		 PMID:2682973 PMID:8810255 PMID:9630231 PMID:10606976 PMID:10891452 More... NCBI chr 1:28,667,996...28,701,002 JBrowse link
G RAG2 recombination activating 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia OMIM
ClinVar		 PMID:10777560 PMID:11138625 PMID:11313270 PMID:15025726 PMID:16960852 More... NCBI chr 1:28,645,175...28,653,823
Ensembl chr 1:28,649,930...28,651,513 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15342
    syndrome 10273
      Omenn syndrome 4
Path 2
Term Annotations click to browse term
  disease 15342
    disease of anatomical entity 15027
      Immune & Inflammatory Diseases 5115
        immune system disease 4453
          primary immunodeficiency disease 3865
            combined immunodeficiency 918
              severe combined immunodeficiency 509
                Omenn syndrome 4
paths to the root