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ONTOLOGY REPORT - ANNOTATIONS


Term:Immunodeficiency 55
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Accession:DOID:9009113 term browser browse the term
Definition:An autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria.
Synonyms:exact_synonym: IMD55
 primary_id: OMIM:617827
For additional species annotation, visit the Alliance of Genome Resources.


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Immunodeficiency 55 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gins1 GINS complex subunit 1 JBrowse link 3 146,695,366 146,716,787 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      primary immunodeficiency disease 978
        Immunodeficiency 55 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      Immune & Inflammatory Diseases 3120
        immune system disease 2541
          primary immunodeficiency disease 978
            Immunodeficiency 55 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.