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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: MIM:605258
 xref: GARD:10578;   MONDO:0011528;   NCI:C129074;   ORDO:101089


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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
ISS		 OMIM:605258
ClinVar Annotator: match by term: Hyper-IgM syndrome type 2		 OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:11007475 PMID:11112359 PMID:12715918 PMID:12910268 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...156,599,279
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
Ensembl chr 4:156,539,408...156,558,605 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 2 ClinVar PMID:16007086 PMID:16007087 PMID:17392798 PMID:18981294 PMID:21547394 More... NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11214
        Hypergammaglobulinemia 20
          immunodeficiency with hyper-IgM type 2 5
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Immune & Inflammatory Diseases 5767
        immune system disease 5044
          primary immunodeficiency disease 4429
            B cell deficiency 443
              selective immunoglobulin deficiency disease 73
                dysgammaglobulinemia 73
                  hyperimmunoglobulin syndrome 65
                    hyper IgM syndrome 20
                      immunodeficiency with hyper-IgM type 2 5
paths to the root