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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/SHORT STATURE SYNDROME
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Accession:DOID:9008992 term browser browse the term
Synonyms:exact_synonym: ECTDS
 primary_id: OMIM:616029;   RDO:9001440
For additional species annotation, visit the Alliance of Genome Resources.



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ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia/short stature syndrome OMIM
ClinVar
PMID:25152456 PMID:25741868 PMID:28492532 NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      Skin and Connective Tissue Diseases 6595
        connective tissue disease 4954
          bone disease 3629
            bone development disease 1807
              Dwarfism 739
                ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 1
paths to the root