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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 85
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Accession:DOID:9001304 term browser browse the term
Definition:An autosomal dominant immunologic disorder characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life. Caused by heterozygous mutation in the TOM1 gene on chromosome 22q12. (OMIM)
Synonyms:exact_synonym: IMD85;   immunodeficiency 85 and autoimmunity
 primary_id: OMIM:619510
For additional species annotation, visit the Alliance of Genome Resources.



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Immunodeficiency 85 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tom1 target of myb1 membrane trafficking protein ISO OMIM NCBI chr19:13,405,482...13,440,384
Ensembl chr19:13,405,501...13,440,384
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    syndrome 9691
      primary immunodeficiency disease 3832
        Immunodeficiency 85 1
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      Immune & Inflammatory Diseases 5182
        immune system disease 4489
          primary immunodeficiency disease 3832
            autoimmune disease 2293
              Immunodeficiency 85 1
paths to the root