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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 48
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Accession:DOID:0111943 term browser browse the term
Definition:A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in ZAP70 on chromosome 2q11.2. (DO)
Synonyms:exact_synonym: IMD48;   STCD;   Zap70-Related Scid;   Zap70-Related Severe Combined Immunodeficiency;   combined immunodeficiency due to ZAP70 deficiency;   selective T-cell defect;   zeta-associated-protein 70 deficiency
 primary_id: MESH:C536722
 alt_id: OMIM:269840
 xref: GARD:387;   ORDO:911
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 48 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zap70 zeta chain of T cell receptor associated protein kinase 70 ISO ClinVar Annotator: match by term: ZAP70-Related Severe Combined Immunodeficiency
ClinVar Annotator: match by term: Combined immunodeficiency due to ZAP70 deficiency
OMIM
ClinVar
PMID:8124727, PMID:8202712, PMID:8202713, PMID:11412303, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 9:43,331,149...43,353,097
Ensembl chr 9:43,331,155...43,353,113
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      primary immunodeficiency disease 2346
        T cell deficiency 10
          immunodeficiency 48 1
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
            combined immunodeficiency 149
              severe combined immunodeficiency 91
                immunodeficiency 48 1
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.