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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:Immunodeficiency 92
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Accession:DOID:9000365 term browser browse the term
Definition:An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Caused by homozygous mutation in the REL gene on chromosome 2p16.
Synonyms:exact_synonym: IMD92
 primary_id: OMIM:619652



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Immunodeficiency 92 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rel REL proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Immunodeficiency 92 OMIM
ClinVar
PMID:31103457 PMID:34623332 NCBI chr14:97,690,105...97,721,194
Ensembl chr14:97,695,161...97,720,892
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    syndrome 10792
      primary immunodeficiency disease 4141
        Immunodeficiency 92 1
Path 2
Term Annotations click to browse term
  disease 21121
    disease of anatomical entity 18204
      Immune & Inflammatory Diseases 5560
        immune system disease 4768
          primary immunodeficiency disease 4141
            Immunodeficiency 92 1
paths to the root