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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 91 AND HYPERINFLAMMATION
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Accession:DOID:9003310 term browser browse the term
Definition:This disease is an autosomal recessive complex immunologic disorder characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement. Affected individuals present in infancy with variable features, including fever, infection, thrombocytopenia, renal or hepatic dysfunction, recurrent infections, or seizures. The disorder is thought to result from dysregulation of the interferon response to viral stimulation in the innate immune system.
Synonyms:exact_synonym: IMD91
 primary_id: OMIM:619644


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IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znfx1 zinc finger, NFX1-type containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 91 and hyperinflammation OMIM
ClinVar		 PMID:25741868 PMID:33872655 PMID:33876776 NCBI chr 3:155,764,073...155,791,777
Ensembl chr 3:155,764,980...155,821,242 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      primary immunodeficiency disease 4112
        IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION 1
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      Immune & Inflammatory Diseases 5521
        immune system disease 4735
          primary immunodeficiency disease 4112
            IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION 1
paths to the root