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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 86
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Accession:DOID:9000868 term browser browse the term
Definition:An autosomal recessive immunologic disorder characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine. Caused by homozygous mutation in the SPPL2A gene on chromosome 15q21. (OMIM)
Synonyms:exact_synonym: IMD86;   immunodeficiency 86, mycobacteriosis
 primary_id: OMIM:619549



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Immunodeficiency 86 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sppl2a signal peptide peptidase-like 2A ISO ClinVar Annotator: match by term: Immunodeficiency 86 OMIM
ClinVar
PMID:23472171 PMID:30127434 NCBI chr 3:114,149,337...114,193,408
Ensembl chr 3:114,151,069...114,193,264
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    syndrome 10792
      primary immunodeficiency disease 4141
        Immunodeficiency 86 1
Path 2
Term Annotations click to browse term
  disease 21121
    disease by infectious agent 2212
      Bacterial Infections and Mycoses 1072
        bacterial infectious disease 824
          Gram-Positive Bacterial Infections 394
            Actinomycetales Infections 320
              Mycobacterium Infections 319
                Immunodeficiency 86 1
paths to the root