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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 84
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Accession:DOID:9006187 term browser browse the term
Definition:An autosomal recessive primary immunologic disorder characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development. Caused by heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21. (OMIM)
Synonyms:exact_synonym: IMD84
 primary_id: OMIM:619437
For additional species annotation, visit the Alliance of Genome Resources.


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Immunodeficiency 84 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikzf3 IKAROS family zinc finger 3 ISO ClinVar Annotator: match by term: Immunodeficiency 84 OMIM
ClinVar		 PMID:34155405 NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    syndrome 10787
      primary immunodeficiency disease 4504
        Immunodeficiency 84 1
Path 2
Term Annotations click to browse term
  disease 20983
    disease of anatomical entity 18174
      Immune & Inflammatory Diseases 5896
        immune system disease 5107
          primary immunodeficiency disease 4504
            Immunodeficiency 84 1
paths to the root