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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
 xref: GARD:10581;   ORDO:101092


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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 chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655 		JBrowse link
G Ung uracil-DNA glycosylase ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5 OMIM
ClinVar		 PMID:9536098 PMID:12958596 PMID:15967827 PMID:16199547 PMID:17029639 More... NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Pathological Conditions, Signs and Symptoms 13335
      Signs and Symptoms 10811
        Hypergammaglobulinemia 19
          immunodeficiency with hyper IgM type 5 2
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      Immune & Inflammatory Diseases 5573
        immune system disease 4780
          primary immunodeficiency disease 4153
            B cell deficiency 345
              selective immunoglobulin deficiency disease 49
                dysgammaglobulinemia 49
                  hyperimmunoglobulin syndrome 40
                    hyper IgM syndrome 19
                      immunodeficiency with hyper IgM type 5 2
paths to the root