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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:Macrophage Activation Syndrome
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Accession:DOID:9002798 term browser browse the term
Definition:A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-LYMPHOCYTES and MACROPHAGES. It is seen predominantly in children with systemic onset JUVENILE IDIOPATHIC ARTHRITIS.
Synonyms:primary_id: MESH:D055501;   RDO:0007709
 xref: EFO:1001806


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Macrophage Activation Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il18 interleukin 18 ISO associated with Arthritis, Juvenile;protein:increased expression:serum RGD PMID:20472718 RGD:8655917 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25217959 NCBI chr17:74,733,254...74,766,140
Ensembl chr17:74,732,433...74,766,137 		JBrowse link
G Prf1 perforin 1 (pore forming protein) ISO associated with Arthritis, Juvenile Rheumatoid;DNA:missense mutation:cds:p.A91V (human) RGD PMID:20019066 RGD:6482811 NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16273
    syndrome 10909
      Macrophage Activation Syndrome 3
Path 2
Term Annotations click to browse term
  disease 16273
    disease of anatomical entity 15865
      Immune & Inflammatory Diseases 5369
        immune system disease 4773
          lymphatic system disease 1714
            lymphoproliferative syndrome 1120
              Macrophage Activation Syndrome 3
paths to the root