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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 the IL12B gene 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


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:9854038 PMID:11704807 PMID:11753820 PMID:16199547 More... NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      primary immunodeficiency disease 4146
        immunodeficiency 29 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                immunodeficiency 29 1
paths to the root