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immunodeficiency 122 - Ontology Report - Rat Genome Database

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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:0061088 term browser browse the term
Definition:A T cell, B cell, and NK cell deficiency that is characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin and that has_material_basis_in homozygous mutation in the POLD3 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: IMD122
 alt_id: DOID:9008917
 xref: MIM:620869;   MONDO:0971151

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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 1:163,830,217...163,870,015
Ensembl chr 1:154,418,084...154,456,665 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      primary immunodeficiency disease 4479
        combined immunodeficiency 957
          T cell, B cell, and NK cell deficiency 5
            immunodeficiency 122 1
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10963
            autosomal genetic disease 10452
              autosomal recessive disease 7136
                immunodeficiency 122 1
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