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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186 		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 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757 		JBrowse link
G Rag1 recombination activating 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia		 OMIM
CTD
ClinVar		 PMID:2682973 PMID:8810255 PMID:9630231 PMID:10606976 PMID:10891452 More... 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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:603554
ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:10777560 PMID:11138625 PMID:11313270 PMID:15025726 PMID:16960852 More... 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 19102
    syndrome 11271
      Omenn syndrome 4
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      Immune & Inflammatory Diseases 5757
        immune system disease 4939
          primary immunodeficiency disease 4310
            combined immunodeficiency 943
              severe combined immunodeficiency 527
                Omenn syndrome 4
paths to the root