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ONTOLOGY REPORT - ANNOTATIONS


Term:Ectodermal Dysplasia 3, Anhidrotic
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Accession:DOID:9003272 term browser browse the term
Definition:An autosomal dominant form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR.
Synonyms:exact_synonym: AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA;   AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA SYNDROME;   ECTD10A;   ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;   ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT;   HED;   autosomal dominant ectodermal dysplasia-10A
 primary_id: MESH:D053359
 alt_id: OMIM:129490;   RDO:0007616
For additional species annotation, visit the Alliance of Genome Resources.


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Ectodermal Dysplasia 3, Anhidrotic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edar ectodysplasin-A receptor JBrowse link 10 58,600,780 58,675,696 RGD:7240710
RGD:8554872
RGD:1598883
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain JBrowse link 13 12,471,209 12,520,535 RGD:8554872
RGD:11554173
G Ranbp2 RAN binding protein 2 JBrowse link 10 58,446,852 58,494,155 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12617
    syndrome 4912
      ectodermal dysplasia 252
        hypohidrotic ectodermal dysplasia 12
          Ectodermal Dysplasia 3, Anhidrotic 3
Path 2
Term Annotations click to browse term
  disease 12617
    Developmental Diseases 8630
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7404
        genetic disease 6911
          monogenic disease 4713
            autosomal genetic disease 3717
              autosomal dominant disease 2268
                ectodermal dysplasia 252
                  hypohidrotic ectodermal dysplasia 12
                    Ectodermal Dysplasia 3, Anhidrotic 3
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.