Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Ectodermal Dysplasia 3, Anhidrotic
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 
Ectodermal Dysplasia 3, Anhidrotic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDAR ectodysplasin A receptor JBrowse link 2 108,894,471 108,989,256 RGD:1598883
RGD:8554872
RGD:7240710
G EDARADD EDAR associated death domain JBrowse link 1 236,394,286 236,484,930 RGD:8554872
RGD:11554173
G RANBP2 RAN binding protein 2 JBrowse link 2 108,719,446 109,842,301 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16489
    syndrome 5587
      ectodermal dysplasia 270
        hypohidrotic ectodermal dysplasia 12
          Ectodermal Dysplasia 3, Anhidrotic 3
Path 2
Term Annotations click to browse term
  disease 16489
    Developmental Diseases 10312
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8453
        genetic disease 7923
          monogenic disease 5327
            autosomal genetic disease 4108
              autosomal dominant disease 2512
                ectodermal dysplasia 270
                  hypohidrotic ectodermal dysplasia 12
                    Ectodermal Dysplasia 3, Anhidrotic 3
paths to the root

NHLBI Logo

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