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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:Systemic Autoinflammatory Disease, X-Linked
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Accession:DOID:9002139 term browser browse the term
Definition:Thuis disease is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Laboratory studies show hypogammaglobulinemia, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature.
Synonyms:exact_synonym: SAIDX
 primary_id: MIM:301081


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Systemic Autoinflammatory Disease, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED OMIM
ClinVar		 PMID:25741868 PMID:31874111 PMID:35289316 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    sensory system disease 7383
      skin disease 4322
        Genetic Skin Diseases 1891
          Hereditary Autoinflammatory Diseases 364
            Systemic Autoinflammatory Disease, X-Linked 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        Neurologic Manifestations 10463
          sensory system disease 7383
            skin disease 4322
              Genetic Skin Diseases 1891
                Hereditary Autoinflammatory Diseases 364
                  Systemic Autoinflammatory Disease, X-Linked 1
paths to the root