Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:9000244 term browser browse the term
Synonyms:xref: OMIM:PS613573
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 ClinVar Annotator: match by OMIM:613573
ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1
OMIM
ClinVar
PMID:20691405 PMID:21346770 PMID:24577405 PMID:25529316 PMID:25741868 PMID:28492532 NCBI chr 1:171,370,173...171,388,287
Ensembl chr 1:171,370,099...171,388,598
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14437
    syndrome 7533
      ectodermal dysplasia 389
        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 14437
    disease of anatomical entity 14032
      Skin and Connective Tissue Diseases 5331
        connective tissue disease 4062
          bone disease 2736
            bone development disease 1406
              dysostosis 391
                synostosis 241
                  syndactyly 59
                    Ectodermal Dysplasia-Syndactyly Syndrome 1
                      Ectodermal Dysplasia-Syndactyly Syndrome 1 1
                      Ectodermal Dysplasia-Syndactyly Syndrome 2 0
paths to the root