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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 30
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Accession:DOID:0111990 term browser browse the term
Definition:A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11. (DO)
Synonyms:exact_synonym: IL12RB1 Deficiency;   IMD30;   MSMD due to complete IL12RB1 deficiency;   MSMD due to complete interleukin 12 receptor beta 1 deficiency;   Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency;   Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
 primary_id: OMIM:614891
 xref: NCI:C176800;   ORDO:319552


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Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 10127
      primary immunodeficiency disease 3748
        T cell and NK cell immunodeficiency 4
          immunodeficiency 30 1
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Disease 13486
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12518
        genetic disease 12169
          monogenic disease 10190
            autosomal genetic disease 9402
              autosomal recessive disease 6551
                immunodeficiency 30 1
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