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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 2
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Accession:DOID:0081079 term browser browse the term
Definition:An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_basis_in heterozygous mutation in the NFKBIA gene on chromosome 14q13. (DO)
Synonyms:exact_synonym: EDAID2;   anhidrotic ectodermal dysplasia with T-cell immunodeficiency, autosomal dominant;   anhidrotic ectodermal dysplasia with immunodeficiency 2;   hypohidrotic ectodermal dysplasia with immunodeficiency 2
 primary_id: MESH:C567411
 alt_id: DOID:9000561;   MIM:612132

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ectodermal dysplasia and immunodeficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:8,968,704...9,080,620
Ensembl chrNW_004936494:8,968,704...9,080,620 		JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:8,946,442...8,948,320
Ensembl chrNW_004936494:8,946,442...8,948,358 		JBrowse link
G LOC101965130 signal recognition particle 54 kDa protein ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:9,183,620...9,220,510
Ensembl chrNW_004936494:9,227,321...9,246,955
Ensembl chrNW_004936494:9,227,321...9,246,955 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 OMIM
ClinVar		 PMID:9536098 PMID:12167702 PMID:14523047 PMID:15337789 PMID:17576681 More... NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612 		JBrowse link
G Ppp2r3c protein phosphatase 2 regulatory subunit B''gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:9,247,600...9,283,019
Ensembl chrNW_004936494:9,244,588...9,283,019 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:9,282,894...9,414,350
Ensembl chrNW_004936494:9,289,593...9,413,984 		JBrowse link
G Psma6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:9,443,176...9,467,697
Ensembl chrNW_004936494:9,443,108...9,463,397 		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 2 7
Path 2
Term Annotations click to browse term
  disease 14655
    disease of anatomical entity 14339
      nervous system disease 12615
        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 2 7
paths to the root