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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
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.


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Clouston syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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, PMID:14708603, PMID:15213106, PMID:15769851, PMID:16547895, PMID:16950989, PMID:20536673, PMID:23219093, PMID:23863883, PMID:23926005, PMID:23981984, PMID:24033266, PMID:24514865, PMID:24522190, PMID:24685692, PMID:25262649, PMID:25741868, PMID:26551294, PMID:27137747, PMID:27817781, PMID:28492532, PMID:28501645 NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      ectodermal dysplasia 250
        Clouston syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                Clouston syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.