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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:X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
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Accession:DOID:0080319 term browser browse the term
Definition:A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1). (DO)
Synonyms:exact_synonym: XMEN
 primary_id: OMIM:300853
 alt_id: RDO:9000472
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia ClinVar PMID:28492532 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia ClinVar PMID:28492532 NCBI chr  X:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732
JBrowse link
G LOC691137 hypothetical protein LOC691137 ISO ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia ClinVar PMID:28492532 NCBI chr10:106,511,729...106,512,477 JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
ClinVar Annotator: match by OMIM:300853
OMIM
ClinVar
PMID:16199547 PMID:21796205 PMID:24550228 PMID:25135935 PMID:25504528 More... NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of cellular proliferation 7034
      X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 4
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            X-linked monogenic disease 1021
              combined T cell and B cell immunodeficiency 66
                X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 4
paths to the root