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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:9005011 term browser browse the term
Synonyms:exact_synonym: EDA-ID;   EDAID1;   Ectodermal Dysplasia, Anhidrotic, with Immune Deficiency;   HED-ID ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY;   Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency;   OLEDAID;   X-linked hyper-IgM immunodeficiency with hypohidrotic ectodermal dysplasia;   XHM-ED;   anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema
 primary_id: MESH:C536181
 alt_id: MESH:C564538;   MESH:C564542;   OMIM:300291
 xref: NCI:C118844
For additional species annotation, visit the Alliance of Genome Resources.


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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 JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO OMIM NCBI chrNW_004936809:1,280,254...1,306,964 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12790
    syndrome 6488
      primary immunodeficiency disease 1993
        Ectodermal Dysplasia and Immunodeficiency 3
          Ectodermal Dysplasia and Immunodeficiency 1 2
Path 2
Term Annotations click to browse term
  disease 12790
    disease of anatomical entity 12470
      nervous system disease 10341
        sensory system disease 4707
          mouth disease 671
            tooth disease 261
              Tooth Abnormalities 141
                anodontia 36
                  hypohidrotic ectodermal dysplasia 12
                    Ectodermal Dysplasia and Immunodeficiency 3
                      Ectodermal Dysplasia and Immunodeficiency 1 2
paths to the root