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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:A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. (DO)
Synonyms:exact_synonym: HIGM1;   HIGM1 syndrome;   HIGM1 syndromes;   HIGMX-1;   Hyper IgM Syndrome 1;   IHIS;   IMD3;   IMMUNODEFICIENCY 3;   IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM;   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


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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 IDA
ISO		 ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:mutations:exon, intron:multiple
DNA:missense mutation:exon:p.T169N (526T>A) (human)		 ClinVar
CTD
OMIM
RGD		 PMID:15611226 PMID:25741868 PMID:28492532 PMID:21841160 PMID:17553565 More... RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISO DNA:mutation:splicing site:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia		 OMIM
CTD
ClinVar
RGD		 PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 More... RGD:12791265 NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      primary immunodeficiency disease 3856
        B cell deficiency 341
          hyperimmunoglobulin syndrome 39
            CD40 ligand deficiency 3
              ectodermal dysplasia and immunodeficiency 1 2
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      Immune & Inflammatory Diseases 5172
        immune system disease 4464
          primary immunodeficiency disease 3856
            B cell deficiency 341
              selective immunoglobulin deficiency disease 48
                dysgammaglobulinemia 48
                  hyperimmunoglobulin syndrome 39
                    CD40 ligand deficiency 3
                      ectodermal dysplasia and immunodeficiency 1 2
paths to the root