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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:ectodermal dysplasia and immunodeficiency 1
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Accession:DOID:0081078 term browser browse the term
Definition:An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28. (DO)
Synonyms:exact_synonym: EDAID1;   OLEDAID;   X-linked hyper-IgM immunodeficiency with hypohidrotic ectodermal dysplasia;   XHM-ED;   anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema
 alt_id: DOID:9005011
 xref: MESH:C564538;   MESH:C564542;   MIM:300291;   MONDO:0020740;   NCI:C118844;   ORDO:69088

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ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia OMIM
ClinVar		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... NCBI chrNW_004936809:1,280,254...1,306,964
Ensembl chrNW_004936809:1,257,654...1,301,813 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14655
    syndrome 10040
      primary immunodeficiency disease 3882
        ectodermal dysplasia and immune deficiency 9
          ectodermal dysplasia and immunodeficiency 1 2
Path 2
Term Annotations click to browse term
  disease 14655
    Pathological Conditions, Signs and Symptoms 11591
      Signs and Symptoms 9717
        Neurologic Manifestations 9410
          sensory system disease 6655
            mouth disease 959
              tooth disease 431
                Tooth Abnormalities 288
                  tooth agenesis 82
                    anodontia 72
                      hypohidrotic ectodermal dysplasia 25
                        ectodermal dysplasia and immune deficiency 9
                          ectodermal dysplasia and immunodeficiency 1 2
paths to the root