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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-Syndactyly Syndrome
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Accession:DOID:9000244 term browser browse the term
Synonyms:xref: OMIM:PS613573
For additional species annotation, visit the Alliance of Genome Resources.


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Ectodermal Dysplasia-Syndactyly Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN4 nectin cell adhesion molecule 4 ISO OMIM NCBI chr38:21,378,144...21,392,419
Ensembl chr38:21,375,556...21,392,632
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13744
    syndrome 7157
      ectodermal dysplasia 376
        Ectodermal Dysplasia-Syndactyly Syndrome 1
          Ectodermal Dysplasia-Syndactyly Syndrome 1 1
          Ectodermal Dysplasia-Syndactyly Syndrome 2 0
Path 2
Term Annotations click to browse term
  disease 13744
    disease of anatomical entity 13398
      Skin and Connective Tissue Diseases 5142
        connective tissue disease 3904
          bone disease 2645
            bone development disease 1379
              dysostosis 388
                synostosis 238
                  syndactyly 60
                    Ectodermal Dysplasia-Syndactyly Syndrome 1
                      Ectodermal Dysplasia-Syndactyly Syndrome 1 1
                      Ectodermal Dysplasia-Syndactyly Syndrome 2 0
paths to the root