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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 122
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Accession:DOID:9008917 term browser browse the term
Definition:An autosomal recessive inborn error of immunity characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin. Caused by homozygous mutation in the POLD3 gene on chromosome 11q13.
Synonyms:exact_synonym: IMD122
 xref: MIM:620869

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Immunodeficiency 122 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLD3 DNA polymerase delta 3, accessory subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 122 OMIM
ClinVar		 PMID:37030525 PMID:38099988 NCBI chr 1:65,832,887...65,885,671 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15337
    syndrome 10276
      primary immunodeficiency disease 3867
        Immunodeficiency 122 1
Path 2
Term Annotations click to browse term
  disease 15337
    disease of anatomical entity 15019
      Immune & Inflammatory Diseases 5119
        immune system disease 4456
          primary immunodeficiency disease 3867
            Immunodeficiency 122 1
paths to the root