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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 the RIPK1 gene 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
 broad_synonym: RIPK1-RELATED CONDITION
 primary_id: OMIM:618108
 xref: ORDO:529977



show annotations for term's descendants           Sort by:
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: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION | 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:31213653 More... NCBI chr17:30,839,639...30,871,824
Ensembl chr17:30,839,650...30,871,824
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    syndrome 10900
      primary immunodeficiency disease 4159
        immunodeficiency 57 1
Path 2
Term Annotations click to browse term
  disease 18970
    Developmental Disease 14384
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13389
        genetic disease 13005
          monogenic disease 10428
            autosomal genetic disease 9587
              autosomal recessive disease 6667
                immunodeficiency 57 1
paths to the root