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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 Acacb acetyl-CoA carboxylase beta ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:28492532 NCBI chrNW_004936769:950,970...1,053,671 JBrowse link
G Ung uracil DNA glycosylase ISO OMIM NCBI chrNW_004936769:911,296...922,770 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12792
    Pathological Conditions, Signs and Symptoms 8225
      Signs and Symptoms 5386
        Hypergammaglobulinemia 15
          immunodeficiency with hyper IgM type 5 2
Path 2
Term Annotations click to browse term
  disease 12792
    disease of anatomical entity 12471
      Immune & Inflammatory Diseases 2922
        immune system disease 2465
          primary immunodeficiency disease 1994
            B cell deficiency 171
              selective immunoglobulin deficiency disease 25
                dysgammaglobulinemia 25
                  hyperimmunoglobulin syndrome 19
                    hyper IgM syndrome 7
                      immunodeficiency with hyper IgM type 5 2
paths to the root