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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 1
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Accession:DOID:0111664 term browser browse the term
Definition:A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1. (DO)
Synonyms:exact_synonym: CST syndrome;   CST syndromes;   Christ Siemens Touraine syndrome;   ECTD1;   ED1;   EDA;   EDA1;   HED1;   X-linked anhidrotic ectodermal dysplasia;   X-linked anhydrotic ectodermal dysplasia;   X-linked ectodermal dysplasia 1, hypohidrotic/hair/tooth type;   X-linked hypohidrotic ectodermal dysplasia;   X-linked hypohidrotic ectodermal dysplasia 1;   X-linked hypohydridic ectodermal dysplasia;   XHED;   XLHED;   anhidrotic ectodermal dysplasia 1;   anhydrotic ectodermal dysplasia 1;   hypohidrotic ectodermal dysplasia 1
 primary_id: MESH:D053358
 alt_id: OMIA:000543;   OMIM:305100
 xref: ORDO:181
For additional species annotation, visit the Alliance of Genome Resources.



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ectodermal dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar
OMIM
RGD
PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:1598881 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:62,224,763...62,269,344
Ensembl chr  X:62,228,229...62,269,268
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      ectodermal dysplasia 414
        hypohidrotic ectodermal dysplasia 14
          ectodermal dysplasia 1 2
            X-Linked Hypodontia 0
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        sensory system disease 6469
          mouth disease 829
            tooth disease 296
              Tooth Abnormalities 154
                anodontia 40
                  hypohidrotic ectodermal dysplasia 14
                    ectodermal dysplasia 1 2
                      X-Linked Hypodontia 0
paths to the root