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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:Clouston syndrome
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Accession:DOID:14693 term browser browse the term
Definition:An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12. (DO)
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;   hidrotic ectodermal dysplasia;   hidrotic ectodermal dysplasia 2;   hidrotic ectodermal dysplasia syndrome
 primary_id: OMIM:129500
 xref: GARD:2056
For additional species annotation, visit the Alliance of Genome Resources.



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Clouston syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryl1 crystallin, lambda 1 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr15:31,427,011...31,545,997
Ensembl chr15:31,427,054...31,545,997
JBrowse link
G Eda ectodysplasin-A ISO Anhidrotic ectodermal dysplasia, EDA-related OMIA PMID:579352 PMID:3710892 PMID:4055508 PMID:5462764 PMID:6746381 More... NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172
JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr15:31,694,289...31,711,959
Ensembl chr15:31,694,292...31,711,336
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 Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr15:31,181,360...31,206,808
Ensembl chr15:31,181,369...31,206,810
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia syndrome OMIM
ClinVar
PMID:10610709 PMID:11017065 PMID:11807148 PMID:11874494 PMID:11896458 More... NCBI chr15:31,284,562...31,295,010
Ensembl chr15:31,284,419...31,294,582
JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr15:31,665,795...31,688,840 JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr15:31,716,762...31,807,908
Ensembl chr15:31,716,762...31,807,908
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    syndrome 9705
      ectodermal dysplasia 428
        Clouston syndrome 10
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal dominant disease 5310
                Clouston syndrome 10
paths to the root