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ONTOLOGY REPORT - ANNOTATIONS


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: Anhydrotic Ectodermal Dysplasia, X Linked;   CST syndrome;   CST syndromes;   Christ Siemens Touraine Syndrome;   ECTD1;   ED1;   EDA;   EDA1;   HED1;   X-linked anhidrotic 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
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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:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      ectodermal dysplasia 225
        hypohidrotic ectodermal dysplasia 14
          ectodermal dysplasia 1 1
            X-Linked Hypodontia 0
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        sensory system disease 4769
          mouth disease 689
            tooth disease 245
              Tooth Abnormalities 116
                anodontia 38
                  hypohidrotic ectodermal dysplasia 14
                    ectodermal dysplasia 1 1
                      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.