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ONTOLOGY REPORT - ANNOTATIONS


Term:Immunodeficiency 44
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Accession:DOID:9004147 term browser browse the term
Definition:An autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination in some patients. Affected individuals appear to have defects in mitochondrial fission and fusion.
Synonyms:exact_synonym: IMD44
 primary_id: OMIM:616636;   RDO:9000774
For additional species annotation, visit the Alliance of Genome Resources.


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Immunodeficiency 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stat2 signal transducer and activator of transcription 2 JBrowse link 7 2,691,064 2,707,530 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      primary immunodeficiency disease 983
        Immunodeficiency 44 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      Immune & Inflammatory Diseases 3138
        immune system disease 2553
          primary immunodeficiency disease 983
            Immunodeficiency 44 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.