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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:Multisystem Autoimmune Disease, Infantile-Onset, 2
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Accession:DOID:9005984 term browser browse the term
Synonyms:exact_synonym: ADMIO2
 primary_id: MIM:617006


show annotations for term's descendants           Sort by:
Multisystem Autoimmune Disease, Infantile-Onset, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zap70 zeta chain of T cell receptor associated protein kinase 70 ISO ClinVar Annotator: match by term: Autoimmune disease, multisystem, infantile-onset, 2 OMIM
ClinVar		 PMID:20301777 PMID:25627829 PMID:25741868 PMID:26783323 PMID:28492532 More... NCBI chr 9:38,989,750...39,011,701
Ensembl chr 9:38,989,750...39,011,700 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      immune system disease 4939
        autoimmune disease 2367
          Multisystem Autoimmune Disease, Infantile-Onset 3
            Multisystem Autoimmune Disease, Infantile-Onset, 2 1
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
            autoimmune disease 2367
              Multisystem Autoimmune Disease, Infantile-Onset 3
                Multisystem Autoimmune Disease, Infantile-Onset, 2 1
paths to the root