ONTOLOGY REPORT - ANNOTATIONS


Term:Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency
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Accession:DOID:9005011 term browser browse the term
Synonyms:exact_synonym: EDA-ID;   Ectodermal Dysplasia, Anhidrotic, with Immune Deficiency;   HED-ID ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY;   X-Linked Hyper-IgM Immunodeficiency, with Hypohidrotic Ectodermal Dysplasia;   XHM-ED
 primary_id: MESH:C536181;   MESH:C564542
 alt_id: OMIM:300291;   RDO:0001659;   RDO:0013472
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Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:7240710
RGD:8554872
RGD:12791265

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    syndrome 4714
      ectodermal dysplasia 144
        hypohidrotic ectodermal dysplasia 11
          Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency 2
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      Immune & Inflammatory Diseases 3003
        immune system disease 2425
          primary immunodeficiency disease 936
            B cell deficiency 78
              selective immunoglobulin deficiency disease 24
                dysgammaglobulinemia 24
                  hyperimmunoglobulin syndrome 15
                    CD40 ligand deficiency 3
                      Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.