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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 2
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Accession:DOID:0060758 term browser browse the term
Definition:A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13. (DO)
Synonyms:exact_synonym: AID deficiency;   HIGM2;   HIGM2 syndrome;   activation-induced cytidine deaminase deficiency;   hyper IgM immunodeficiency syndrome type 2;   hyper IgM syndrome 2;   hyper-IgM syndrome type 2
 primary_id: OMIM:605258
 alt_id: RDO:9004191
 xref: ICD10CM:D80.5;   NCI:C129074;   ORDO:101089
For additional species annotation, visit the Alliance of Genome Resources.



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immunodeficiency with hyper-IgM type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 OMIM
ClinVar
PMID:9536098 PMID:11007475 PMID:12910268 PMID:14564357 PMID:14769937 More... NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
JBrowse link
G Clec4d C-type lectin domain family 4, member D ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr 4:156,589,591...156,598,969
Ensembl chr 4:156,589,792...156,598,848
JBrowse link
G Clec4e C-type lectin domain family 4, member E ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr 4:156,606,927...156,612,911
Ensembl chr 4:156,607,614...156,612,767
JBrowse link
G Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr 4:156,539,408...156,559,032
Ensembl chr 4:156,539,408...156,558,605
JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:25741868 NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Pathological Conditions, Signs and Symptoms 11297
      Signs and Symptoms 7291
        Hypergammaglobulinemia 19
          immunodeficiency with hyper-IgM type 2 5
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      Immune & Inflammatory Diseases 5154
        immune system disease 4479
          primary immunodeficiency disease 3820
            B cell deficiency 278
              selective immunoglobulin deficiency disease 42
                dysgammaglobulinemia 42
                  hyperimmunoglobulin syndrome 33
                    hyper IgM syndrome 20
                      immunodeficiency with hyper-IgM type 2 5
paths to the root