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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 77
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Accession:DOID:9001958 term browser browse the term
Definition:An immunologic disorder characterized by recurrent and persistent polymicrobial infections with multiple unusual organisms. Caused by heterozygous mutation in the MPEG1 gene on chromosome 11q12. (OMIM)
Synonyms:exact_synonym: IMD77
 primary_id: MIM:619223


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Immunodeficiency 77 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpeg1 macrophage expressed 1 ISO ClinVar Annotator: match by term: Immunodeficiency 77 OMIM
ClinVar		 PMID:25741868 PMID:28422754 PMID:33224153 NCBI chr 1:218,876,848...218,881,364
Ensembl chr 1:209,452,133...209,458,855 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      primary immunodeficiency disease 4479
        Immunodeficiency 77 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      Immune & Inflammatory Diseases 5751
        immune system disease 5071
          primary immunodeficiency disease 4479
            Immunodeficiency 77 1
paths to the root