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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 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 chr13:89,755,665...89,774,185
Ensembl chr13:89,755,845...89,774,378
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      ectodermal dysplasia 385
        Ectodermal Dysplasia-Syndactyly Syndrome 1
          Ectodermal Dysplasia-Syndactyly Syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Skin and Connective Tissue Diseases 5810
        connective tissue disease 4420
          bone disease 3103
            bone development disease 1413
              dysostosis 393
                synostosis 241
                  syndactyly 62
                    Ectodermal Dysplasia-Syndactyly Syndrome 1
                      Ectodermal Dysplasia-Syndactyly Syndrome 1 1
paths to the root