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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



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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 ClinVar Annotator: match by term: Immunodeficiency 85 and autoimmunity OMIM
ClinVar
PMID:25741868 PMID:31263572 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 21142
    syndrome 10749
      primary immunodeficiency disease 4143
        Immunodeficiency 85 1
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      Immune & Inflammatory Diseases 5559
        immune system disease 4770
          primary immunodeficiency disease 4143
            autoimmune disease 2317
              Immunodeficiency 85 1
paths to the root