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ONTOLOGY REPORT - ANNOTATIONS


Term:Hypohidrotic Ectodermal Dysplasia, Autosomal Recessive
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Accession:DOID:9006454 term browser browse the term
Definition:An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN.
Synonyms:exact_synonym: AUTOSOMAL RECESSIVE HYPOHIDROTIC ECTODERMAL DYSPLASIA SYNDROME;   Autosomal Recessive Anhidrotic Ectodermal Dysplasia;   Autosomal Recessive Anhydrotic Ectodermal Dysplasia;   ECTD10B;   ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE;   EDA;   HED;   anhidridic ectodermal dysplasia, autosomal recessive;   anhydridic ectodermal dysplasia, autosomal recessive
 primary_id: MESH:D053360
 alt_id: OMIM:224900;   RDO:0007617
For additional species annotation, visit the Alliance of Genome Resources.


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Hypohidrotic Ectodermal Dysplasia, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc138 coiled-coil domain containing 138 JBrowse link 20 28,076,784 28,158,053 RGD:8554872
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:7240710
RGD:8554872
G Edaradd EDAR-associated death domain JBrowse link 17 90,802,280 90,843,476 RGD:8554872
RGD:11554173
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:8554872
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edaradd EDAR-associated death domain JBrowse link 17 90,802,280 90,843,476 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    syndrome 5228
      ectodermal dysplasia 225
        hypohidrotic ectodermal dysplasia 13
          Hypohidrotic Ectodermal Dysplasia, Autosomal Recessive 4
            Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 0
    Developmental Diseases 8822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7612
        genetic disease 7095
          monogenic disease 4789
            autosomal genetic disease 3769
              autosomal dominant disease 2311
                ectodermal dysplasia 225
                  hypohidrotic ectodermal dysplasia 13
                    Hypohidrotic Ectodermal Dysplasia, Autosomal Recessive 4
                      Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.