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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 severe combined immunodeficiency
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Accession:DOID:0060013 term browser browse the term
Definition:A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. (DO)
Synonyms:exact_synonym: IMD4;   Immunodeficiency 4;   SCID-X1;   SCIDX;   SCIDX1;   Severe Combined Immunodeficiency, X-Linked, T Cell Negative, B Cell Positive, NK Cell Negative;   X-SCID;   X-linked SCID;   X-linked severe combined immunodeficiency disease;   XSCID;   gamma chain deficiency;   thymic epithelial hypoplasia
 primary_id: OMIM:300400
 alt_id: RDO:9004187
 xref: GARD:5618;   NCI:C4682
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Infant, Newborn, Diseases 546
          severe combined immunodeficiency 91
            X-linked severe combined immunodeficiency 3
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            X-linked monogenic disease 917
              X-linked recessive disease 257
                X-linked severe combined immunodeficiency 3
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.