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immunodeficiency 120 - 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 120
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Accession:DOID:0061086 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chromosome 19q13. (DO)
Synonyms:xref: MIM:620836

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Path 1
Term Annotations click to browse term
  disease 15417
    syndrome 10489
      primary immunodeficiency disease 4043
        combined immunodeficiency 929
          combined T cell and B cell immunodeficiency 332
            immunodeficiency 120 0
Path 2
Term Annotations click to browse term
  disease 15417
    Developmental Disease 13512
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12674
        genetic disease 12376
          monogenic disease 10618
            autosomal genetic disease 10175
              autosomal recessive disease 6978
                immunodeficiency 120 0
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