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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 70
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Accession:DOID:0112005 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3. (DO)
Synonyms:exact_synonym: IMD70
 primary_id: OMIM:618969


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immunodeficiency 70 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ivns1abp influenza virus NS1A binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 70 OMIM
ClinVar		 PMID:25741868 PMID:32499645 NCBI chr13:63,427,040...63,446,701
Ensembl chr13:63,427,041...63,446,701 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      primary immunodeficiency disease 4151
        combined immunodeficiency 896
          combined T cell and B cell immunodeficiency 337
            immunodeficiency 70 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                immunodeficiency 70 1
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