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ONTOLOGY REPORT - ANNOTATIONS


Term:Anhidrotic Ectodermal Dysplasia 1
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Accession:DOID:9000365 term browser browse the term
Definition:An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN.
Synonyms:exact_synonym: Anhidrotic Ectodermal Dysplasia, X Linked;   Anhydrotic Ectodermal Dysplasia, X Linked;   CST Syndrome;   CST Syndromes;   Christ Siemens Touraine Syndrome;   ECTD1;   ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED;   ED1;   EDA;   EDA1;   Ectodermal Dysplasia 1;   Ectodermal Dysplasia 1, Anhydrotic;   HED1;   X-linked hypohidrotic ectodermal dysplasia;   X-linked hypohidrotic ectodermal dysplasia 1;   X-linked hypohydridic ectodermal dysplasia;   XHED;   XLHED;   hypohidrotic ectodermal dysplasia 1
 primary_id: MESH:D053358
 alt_id: OMIA:000543;   OMIM:305100;   RDO:0002929
For additional species annotation, visit the Alliance of Genome Resources.


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Anhidrotic Ectodermal Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eda ectodysplasin-A JBrowse link X 69,730,123 70,222,693 RGD:1598881
RGD:8554872
RGD:7240710
G Eda2r ectodysplasin A2 receptor JBrowse link X 66,560,200 66,602,509 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15578
    syndrome 5127
      ectodermal dysplasia 249
        hypohidrotic ectodermal dysplasia 13
          Anhidrotic Ectodermal Dysplasia 1 2
            X-Linked Hypodontia 0
Path 2
Term Annotations click to browse term
  disease 15578
    disease of anatomical entity 14907
      nervous system disease 10189
        sensory system disease 4657
          mouth disease 678
            tooth disease 238
              Tooth Abnormalities 112
                anodontia 37
                  hypohidrotic ectodermal dysplasia 13
                    Anhidrotic Ectodermal Dysplasia 1 2
                      X-Linked Hypodontia 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.