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ONTOLOGY REPORT - ANNOTATIONS


Term:Immunodeficiency 48
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Accession:DOID:9008997 term browser browse the term
Synonyms:exact_synonym: IMD48;   STCD;   Selective T-Cell Defect;   Zap70-Related Scid;   Zap70-Related Severe Combined Immunodeficiency;   Zeta-associated-protein 70 deficiency
 primary_id: MESH:C536722;   OMIM:269840;   RDO:0002385
For additional species annotation, visit the Alliance of Genome Resources.


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Immunodeficiency 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zap70 zeta chain of T cell receptor associated protein kinase 70 JBrowse link 9 43,331,149 43,353,097 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      primary immunodeficiency disease 978
        Immunodeficiency 48 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            X-linked monogenic disease 856
              combined T cell and B cell immunodeficiency 65
                severe combined immunodeficiency 51
                  Immunodeficiency 48 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.