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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 with hyper IgM type 5
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Accession:DOID:0060759 term browser browse the term
Definition:A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1. (DO)
Synonyms:exact_synonym: HIGM5;   HIGM5 syndrome;   hyper IgM immunodeficiency syndrome type 5;   hyper-IgM syndrome 5;   hyper-IgM syndrome due to UNG deficiency;   hyper-IgM syndrome due to uracil N-glycosylase
 primary_id: OMIM:608106
 alt_id: RDO:9004212
 xref: ORDO:101092;   ORDO:183666
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency with hyper IgM type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ung uracil-DNA glycosylase ISO ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5 ClinVar
OMIM
PMID:12958596, PMID:15967827, PMID:17029639, PMID:21167187, PMID:22252118, PMID:22521144, PMID:23545420, PMID:28492532 NCBI chr12:48,246,593...48,255,547
Ensembl chr12:48,246,569...48,254,822
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Pathological Conditions, Signs and Symptoms 8726
      Signs and Symptoms 5192
        Hypergammaglobulinemia 15
          immunodeficiency with hyper IgM type 5 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Immune & Inflammatory Diseases 3511
        immune system disease 2931
          primary immunodeficiency disease 2348
            B cell deficiency 88
              selective immunoglobulin deficiency disease 29
                dysgammaglobulinemia 29
                  hyperimmunoglobulin syndrome 19
                    hyper IgM syndrome 6
                      immunodeficiency with hyper IgM type 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.