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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 NW_004936829 429,667 458,943 RGD:7240710
RGD:9068941
G Edaradd EDAR associated death domain JBrowse link NW_004936484 16,394,753 16,446,102 RGD:9068941
G LOC101974817 E3 SUMO-protein ligase RanBP2 JBrowse link NW_004936829 261,017 333,910 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11416
    syndrome 4544
      ectodermal dysplasia 237
        hypohidrotic ectodermal dysplasia 12
          Ectodermal Dysplasia 3, Anhidrotic 3
Path 2
Term Annotations click to browse term
  disease 11416
    Developmental Diseases 7967
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6888
        genetic disease 6419
          monogenic disease 4445
            autosomal genetic disease 3547
              autosomal dominant disease 2174
                ectodermal dysplasia 237
                  hypohidrotic ectodermal dysplasia 12
                    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.