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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 chr 1:136,484,235...136,502,478
Ensembl chr 1:140,397,817...140,414,897
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13776
    syndrome 7173
      ectodermal dysplasia 385
        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 13776
    disease of anatomical entity 13430
      Skin and Connective Tissue Diseases 5158
        connective tissue disease 3915
          bone disease 2634
            bone development disease 1370
              dysostosis 384
                synostosis 234
                  syndactyly 62
                    Ectodermal Dysplasia-Syndactyly Syndrome 1
                      Ectodermal Dysplasia-Syndactyly Syndrome 1 1
                      Ectodermal Dysplasia-Syndactyly Syndrome 2 0
paths to the root