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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
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Accession:DOID:9002419 term browser browse the term
Synonyms:primary_id: RDO:9005173
 xref: OMIM:PS615952
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Multisystem Autoimmune Disease, Infantile-Onset, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: STAT3-related early-onset multisystem autoimmune disease OMIM
ClinVar
PMID:17881745 PMID:20301786 PMID:21288777 PMID:24033266 PMID:25038750 More... NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
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 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 18145
    disease of anatomical entity 17519
      immune system disease 4489
        autoimmune disease 2293
          Multisystem Autoimmune Disease, Infantile-Onset 2
            Multisystem Autoimmune Disease, Infantile-Onset, 1 1
            Multisystem Autoimmune Disease, Infantile-Onset, 2 1
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      Immune & Inflammatory Diseases 5182
        immune system disease 4489
          primary immunodeficiency disease 3832
            autoimmune disease 2293
              Multisystem Autoimmune Disease, Infantile-Onset 2
                Multisystem Autoimmune Disease, Infantile-Onset, 1 1
                Multisystem Autoimmune Disease, Infantile-Onset, 2 1
paths to the root