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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 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1 ClinVar
OMIM
PMID:20691405 PMID:21346770 PMID:24577405 PMID:25529316 PMID:25741868 PMID:28492532 NCBI chr 1:161,070,998...161,089,566
Ensembl chr 1:161,070,998...161,089,558
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20160
    syndrome 8995
      ectodermal dysplasia 431
        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 20160
    disease of anatomical entity 18757
      Skin and Connective Tissue Diseases 6100
        connective tissue disease 4616
          bone disease 3136
            bone development disease 1559
              dysostosis 442
                synostosis 273
                  syndactyly 66
                    Ectodermal Dysplasia-Syndactyly Syndrome 1
                      Ectodermal Dysplasia-Syndactyly Syndrome 1 1
                      Ectodermal Dysplasia-Syndactyly Syndrome 2 0
paths to the root