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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 57
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Accession:DOID:0111952 term browser browse the term
Definition:A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in RIPK1 on chromosome 6p25.2. (DO)
Synonyms:exact_synonym: IMD57;   immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome;   immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome;   immunodeficiency 57 with autoinflammation
 primary_id: OMIM:618108
 xref: ORDO:529977
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 57 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk1 receptor interacting serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome | ClinVar Annotator: match by term: Immunodeficiency 57 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30026316 PMID:30591564 PMID:32181283 NCBI chr17:30,839,639...30,871,824
Ensembl chr17:30,839,650...30,871,824 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    syndrome 10788
      primary immunodeficiency disease 4504
        immunodeficiency 57 1
Path 2
Term Annotations click to browse term
  disease 20988
    Developmental Disease 18234
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18064
        genetic disease 17984
          monogenic disease 10259
            autosomal genetic disease 9395
              autosomal recessive disease 6475
                immunodeficiency 57 1
paths to the root