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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 HYOU1 on chromosome 11q23.3. (DO)
Synonyms:exact_synonym: IMD59;   granulocytopenia with immunoglobin abnormality;   granulocytopenia with immunoglobulin abnormality;   immunodeficiency 59 and hypoglycemia
 primary_id: MESH:C565535
 alt_id: OMIM:233600


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immunodeficiency 59 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr4 C-X-C motif chemokine receptor 4 ISO ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality ClinVar PMID:25741868 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality OMIM
ClinVar		 PMID:25741868 PMID:27913302 PMID:28492532 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      primary immunodeficiency disease 4108
        combined immunodeficiency 903
          B cell and dendritic cell deficiency 2
            immunodeficiency 59 2
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      Immune & Inflammatory Diseases 5520
        immune system disease 4735
          primary immunodeficiency disease 4108
            B cell deficiency 329
              agammaglobulinemia 280
                immunodeficiency 59 2
paths to the root