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:Clouston syndrome
go back to main search page
Accession:DOID:14693 term browser browse the term
Synonyms:exact_synonym: Clouston Hidrotic Ectodermal Dysplasia;   Clouston's hidrotic ectodermal dysplasia;   Clouston's syndrome;   Cloustons syndrome;   ECTD2;   ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE;   HED2;   autosomal dominant hidrotic ectodermal dysplasia;   ectodermal dysplasia 2, hidrotic;   hidrotic ectodermal dysplasia;   hidrotic ectodermal dysplasia syndrome
 primary_id: OMIM:129500
 xref: GARD:2056
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Clouston syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO Anhidrotic ectodermal dysplasia, EDA-related OMIA PMID:3710892 PMID:4055508 PMID:5462764 PMID:6746381 PMID:9419891 More... NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172
JBrowse link
G Foxi3 forkhead box I3 ISO Ectodermal dysplasia OMIA PMID:3998444 PMID:8437436 PMID:15771734 PMID:15958791 PMID:18787161 More... NCBI chr 4:102,933,487...102,937,655
Ensembl chr 4:102,933,409...102,937,655
JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia syndrome ClinVar
OMIM
PMID:10610709 PMID:11017065 PMID:11874494 PMID:12419304 PMID:12788524 More... NCBI chr15:31,284,562...31,295,010
Ensembl chr15:31,284,419...31,294,582
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      ectodermal dysplasia 385
        Clouston syndrome 3
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                Clouston syndrome 3
paths to the root