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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 88
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Accession:DOID:9000762 term browser browse the term
Definition:An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. Caused by homozygous mutation in the TBX21 gene on chromosome 17q21.
Synonyms:exact_synonym: IMD88;   immunodeficiency 88, mycobacteriosis, autosomal recessive
 primary_id: MIM:619630


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Immunodeficiency 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx21 T-box transcription factor 21 susceptibility ISO ClinVar Annotator: match by term: Immunodeficiency 88 ClinVar
OMIM		 PMID:25741868 NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    syndrome 11271
      primary immunodeficiency disease 4421
        Immunodeficiency 88 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease by infectious agent 2253
      Bacterial Infections and Mycoses 1118
        bacterial infectious disease 824
          Gram-Positive Bacterial Infections 395
            Actinomycetales Infections 320
              Mycobacterium Infections 319
                Immunodeficiency 88 1
paths to the root