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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 1
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Accession:DOID:9002370 term browser browse the term
Synonyms:exact_synonym: EDSS1
 primary_id: OMIM:613573
 alt_id: RDO:0009912
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 chrNW_004936903:381,383...398,339 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12955
    syndrome 6845
      ectodermal dysplasia 360
        Ectodermal Dysplasia-Syndactyly Syndrome 1
          Ectodermal Dysplasia-Syndactyly Syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 12955
    disease of anatomical entity 12628
      Skin and Connective Tissue Diseases 4899
        connective tissue disease 3717
          bone disease 2549
            bone development disease 1331
              dysostosis 372
                synostosis 232
                  syndactyly 60
                    Ectodermal Dysplasia-Syndactyly Syndrome 1
                      Ectodermal Dysplasia-Syndactyly Syndrome 1 1
paths to the root