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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:CD40 ligand deficiency
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Accession:DOID:0060022 term browser browse the term
Definition:An X-linked hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 LIGAND.
Synonyms:exact_synonym: HIGM1;   HIGM1 syndrome;   HIGM1 syndromes;   HIGMX-1;   Hyper IgM Syndrome 1;   IHIS;   IMD3;   IMMUNODEFICIENCY 3;   Immunodeficiency with Hyper IgM, Type 1;   X-linked hyper-IgM immunodeficiencies;   X-linked hyper-IgM immunodeficiency;   X-linked hyper-IgM syndrome;   X-linked hyper-immunoglobulin M (IgM) syndrome;   XHIGM;   XHIM;   hyper-IgM immunodeficiency syndrome, type 1
 primary_id: MESH:D053307
 alt_id: OMIM:308230;   RDO:0007615
For additional species annotation, visit the Alliance of Genome Resources.


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CD40 ligand deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40lg CD40 ligand disease_progression ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome
ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 1
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:308230
DNA:mutations:exon, intron:multiple
DNA:missense mutation:exon:p.T169N (526T>A) (human)
ClinVar
RGD
CTD
OMIM
PMID:1385114, PMID:1427881, PMID:7586644, PMID:7678782, PMID:7679206, PMID:7679801, PMID:7906987, PMID:7916370, PMID:8094231, PMID:8550833, PMID:8589998, PMID:8889581, PMID:9746782, PMID:10366125, PMID:10484640, PMID:10559240, PMID:10651941, PMID:11158612, PMID:14641931, PMID:15358621, PMID:15611226, PMID:15623492, PMID:15924140, PMID:16019685, PMID:16169277, PMID:16509032, PMID:17146684, PMID:17351759, PMID:18805740, PMID:18955577, PMID:19575287, PMID:20301576, PMID:20591076, PMID:20625427, PMID:20652909, PMID:20981468, PMID:21543760, PMID:21841160, PMID:22750225, PMID:22928961, PMID:22963373, PMID:23622016, PMID:24402618, PMID:25541662, PMID:25741868, PMID:27324886, PMID:28492532, PMID:29077208, PMID:21841160, PMID:17553565, PMID:15358621, PMID:16508335 RGD:5490298, RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar PMID:25741868 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by OMIM:300291
ClinVar Annotator: match by synonym: EDA-ID
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia with immune deficiency
DNA:mutation:splicing site:
ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
OMIM
ClinVar
PMID:117248, PMID:8169255, PMID:11047757, PMID:11179023, PMID:11224521, PMID:11242109, PMID:11484156, PMID:11590134, PMID:12045264, PMID:14726382, PMID:15100680, PMID:15833888, PMID:16228229, PMID:16333836, PMID:16379012, PMID:16532398, PMID:16818673, PMID:16950813, PMID:17072331, PMID:17910706, PMID:18851874, PMID:19903677, PMID:21622647, PMID:24682681, PMID:25741868, PMID:26117626, PMID:29077208, PMID:16333836 RGD:12791265 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      primary immunodeficiency disease 2346
        B cell deficiency 88
          hyperimmunoglobulin syndrome 19
            CD40 ligand deficiency 3
              Ectodermal Dysplasia and Immunodeficiency 1 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Immune & Inflammatory Diseases 3506
        immune system disease 2926
          primary immunodeficiency disease 2346
            B cell deficiency 88
              selective immunoglobulin deficiency disease 29
                dysgammaglobulinemia 29
                  hyperimmunoglobulin syndrome 19
                    CD40 ligand deficiency 3
                      Ectodermal Dysplasia and Immunodeficiency 1 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.