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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 59
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Accession:DOID:0111974 term browser browse the term
Definition:A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the HYOU1 gene on chromosome 11q23.3. (DO)
Synonyms:exact_synonym: HYOU1-RELATED CONDITION;   IMD59;   granulocytopenia with immunoglobin abnormality;   granulocytopenia with immunoglobulin abnormality;   immunodeficiency 59 and hypoglycemia
 primary_id: MESH:C565535
 alt_id: MIM:233600


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immunodeficiency 59 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality | ClinVar Annotator: match by term: HYOU1-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27913302 PMID:28492532 NCBI chr 8:53,602,882...53,614,998
Ensembl chr 8:53,602,604...53,614,997 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11437
      primary immunodeficiency disease 4482
        combined immunodeficiency 950
          B cell and dendritic cell deficiency 1
            immunodeficiency 59 1
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      Immune & Inflammatory Diseases 5763
        immune system disease 5076
          primary immunodeficiency disease 4482
            B cell deficiency 448
              agammaglobulinemia 371
                immunodeficiency 59 1
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