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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 chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by OMIM:300291
ClinVar Annotator: match by synonym: EDA-ID
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia with immune deficiency
DNA:mutation:splicing site:
ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
OMIM
ClinVar
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 PMID:11242109 PMID:11484156 PMID:11590134 PMID:12045264 PMID:14726382 PMID:15100680 PMID:15833888 PMID:16228229 PMID:16333836 PMID:16379012 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25741868 PMID:26117626 PMID:29077208, PMID:16333836 RGD:12791265 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      primary immunodeficiency disease 2693
        Ectodermal Dysplasia and Immunodeficiency 3
          Ectodermal Dysplasia and Immunodeficiency 1 2
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        sensory system disease 5580
          mouth disease 770
            tooth disease 295
              Tooth Abnormalities 155
                anodontia 41
                  hypohidrotic ectodermal dysplasia 15
                    Ectodermal Dysplasia and Immunodeficiency 3
                      Ectodermal Dysplasia and Immunodeficiency 1 2
paths to the root