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immunodeficiency with hyper IgM type 5 - Ontology Report - Rat Genome Database

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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: MIM: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 N Acacb acetyl-CoA carboxylase beta ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:28492532 NCBI chrNW_004624747:12,287,817...12,426,340
Ensembl chrNW_004624747:12,307,541...12,424,897 		JBrowse link
G G ACACB acetyl-CoA carboxylase beta ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:28492532 NCBI chr11:104,325,250...104,488,567
Ensembl chr11:104,349,573...104,488,003 		JBrowse link
G P ACACB acetyl-CoA carboxylase beta ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:28492532 NCBI chr14:41,621,574...41,739,916
Ensembl chr14:41,621,574...41,739,916 		JBrowse link
G S 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
Ensembl chrNW_004936769:950,845...1,051,887 		JBrowse link
G D ACACB acetyl-CoA carboxylase beta ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:28492532 NCBI chr26:17,763,531...17,895,319
Ensembl chr26:17,747,362...17,894,400 		JBrowse link
G B ACACB acetyl-CoA carboxylase beta ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:28492532 NCBI chr12:106,692,668...106,845,490
Ensembl chr12:110,086,374...110,239,847 		JBrowse link
G C Acacb acetyl-CoA carboxylase beta ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:28492532 NCBI chrNW_004955455:10,282,308...10,427,439
Ensembl chrNW_004955455:10,308,192...10,426,076 		JBrowse link
G R Acacb acetyl-CoA carboxylase beta ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:28492532 NCBI chr12:48,026,394...48,138,214
Ensembl chr12:42,366,548...42,457,655 		JBrowse link
G M Acacb acetyl-Coenzyme A carboxylase beta ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:28492532 NCBI chr 5:114,284,748...114,388,822
Ensembl chr 5:114,284,596...114,388,822 		JBrowse link
G H ACACB acetyl-CoA carboxylase beta IAGP ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:28492532 NCBI chr12:109,111,189...109,268,226
Ensembl chr12:109,116,587...109,268,226 		JBrowse link
G H LOC130008712 ATAC-STARR-seq lymphoblastoid silent region 4838 IAGP ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:12958596 PMID:16199547 PMID:28492532 NCBI chr12:109,097,776...109,098,165 JBrowse link
G N 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 chrNW_004624747:12,261,546...12,275,229
Ensembl chrNW_004624747:12,261,623...12,274,859 		JBrowse link
G 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 chr11:104,302,507...104,325,160 JBrowse link
G P 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 chr14:41,746,498...41,757,841
Ensembl chr14:41,746,502...41,757,807 		JBrowse link
G S 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 chrNW_004936769:911,296...922,770
Ensembl chrNW_004936769:910,838...922,726 		JBrowse link
G D 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 chr26:17,900,354...17,911,126
Ensembl chr26:17,901,357...17,911,288 		JBrowse link
G B 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 chr12:106,674,073...106,687,054
Ensembl chr12:110,067,879...110,080,891 		JBrowse link
G C 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 chrNW_004955455:10,266,989...10,282,196
Ensembl chrNW_004955455:10,266,989...10,282,196 		JBrowse link
G R 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 chr12:48,145,838...48,154,789
Ensembl chr12:42,485,276...42,494,206 		JBrowse link
G M 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 chr 5:114,268,427...114,277,382
Ensembl chr 5:114,268,447...114,277,384 		JBrowse link
G H UNG uracil DNA glycosylase IAGP ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5		 ClinVar
OMIM		 PMID:9536098 PMID:12958596 PMID:15967827 PMID:16199547 PMID:17029639 More... NCBI chr12:109,097,597...109,110,992
Ensembl chr12:109,097,597...109,126,725 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Hypergammaglobulinemia 209
          immunodeficiency with hyper IgM type 5 21
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      Immune & Inflammatory Diseases 73737
        immune system disease 64599
          primary immunodeficiency disease 53864
            B cell deficiency 4681
              selective immunoglobulin deficiency disease 764
                dysgammaglobulinemia 764
                  hyperimmunoglobulin syndrome 667
                    hyper IgM syndrome 196
                      immunodeficiency with hyper IgM type 5 21
paths to the root