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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 34,873,311 34,943,140 RGD:7240710
RGD:9068941
G EDARADD EDAR associated death domain JBrowse link 4 3,608,545 3,659,357 RGD:9068941
G LOC474539 E3 SUMO-protein ligase RanBP2 JBrowse link 10 35,088,175 35,181,248 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12065
    syndrome 4742
      ectodermal dysplasia 246
        hypohidrotic ectodermal dysplasia 11
          Ectodermal Dysplasia 3, Anhidrotic 3
Path 2
Term Annotations click to browse term
  disease 12065
    Developmental Diseases 8344
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7163
        genetic disease 6673
          monogenic disease 4594
            autosomal genetic disease 3624
              autosomal dominant disease 2217
                ectodermal dysplasia 246
                  hypohidrotic ectodermal dysplasia 11
                    Ectodermal Dysplasia 3, Anhidrotic 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.