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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: 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: DOID:9005011;   MESH:C564538;   MESH:C564542;   MIM:300291
 xref: 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 chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO DNA:mutation:splicing site:
CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar
RGD		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    syndrome 11175
      primary immunodeficiency disease 4303
        ectodermal dysplasia and immune deficiency 10
          ectodermal dysplasia and immunodeficiency 1 2
Path 2
Term Annotations click to browse term
  disease 19055
    Pathological Conditions, Signs and Symptoms 13535
      Signs and Symptoms 11086
        Neurologic Manifestations 10337
          sensory system disease 7249
            mouth disease 1032
              tooth disease 460
                Tooth Abnormalities 295
                  anodontia 74
                    hypohidrotic ectodermal dysplasia 28
                      ectodermal dysplasia and immune deficiency 10
                        ectodermal dysplasia and immunodeficiency 1 2
paths to the root