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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 29
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Accession:DOID:0111950 term browser browse the term
Definition:A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in IL12B on chromosome 5q33.3. (DO)
Synonyms:exact_synonym: IL12B deficiency;   IMD29;   MSMD due to complete IL12B deficiency;   MSMD due to complete interleukin 12B deficiency;   Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency;   Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency;   immunodeficiency 29, mycobacteriosis
 primary_id: OMIM:614890
 xref: ORDO:319558
For additional species annotation, visit the Alliance of Genome Resources.



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immunodeficiency 29 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il12b interleukin 12B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency OMIM
ClinVar
PMID:9536098 PMID:9854038 PMID:11704807 PMID:11753820 PMID:17236132 More... NCBI chr10:28,888,832...28,903,796
Ensembl chr10:28,893,008...28,902,903
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      primary immunodeficiency disease 3831
        immunodeficiency 29 1
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          monogenic disease 8599
            autosomal genetic disease 7602
              autosomal recessive disease 4638
                immunodeficiency 29 1
paths to the root