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ONTOLOGY REPORT - ANNOTATIONS


Term:hypohidrotic ectodermal dysplasia
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Accession:DOID:14793 term browser browse the term
Definition:An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). (DO)
Synonyms:exact_synonym: Christ-Siemens-Touraine syndrome;   Ectodermal Dysplasia 1, Anhydrotic;   Hypohidrotic X-linked ectodermal dysplasia;   anhidrotic ectodermal dysplasia 3
 primary_id: RDO:9004253
 xref: GARD:76;   NCI:C84562;   OMIM:PS300291;   ORDO:238468
For additional species annotation, visit the Alliance of Genome Resources.


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hypohidrotic ectodermal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eda ectodysplasin-A JBrowse link X 69,730,123 70,222,693 RGD:8554872
RGD:14398763
RGD:13592920
G Eda2r ectodysplasin A2 receptor JBrowse link X 66,560,200 66,602,509 RGD:8554872
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:13592920
RGD:8554872
G Edaradd EDAR-associated death domain JBrowse link 17 90,802,280 90,843,476 RGD:13592920
RGD:14398762
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:13592920
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:8554872
G Traf6 TNF receptor associated factor 6 JBrowse link 3 91,252,829 91,271,607 RGD:13592920
G Wnt10a Wnt family member 10A JBrowse link 9 82,053,581 82,066,047 RGD:8554872
Anhidrotic Ectodermal Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eda ectodysplasin-A JBrowse link X 69,730,123 70,222,693 RGD:1598881
RGD:8554872
RGD:7240710
G Eda2r ectodysplasin A2 receptor JBrowse link X 66,560,200 66,602,509 RGD:8554872
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfkbia NFKB inhibitor alpha JBrowse link 6 76,267,227 76,270,457 RGD:7240710
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
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cst6 cystatin E/M JBrowse link 1 220,727,292 220,729,000 RGD:7240710
RGD:8554872
Ectodermal Dysplasia 3, Anhidrotic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:1598883
RGD:8554872
RGD:7240710
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
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
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:7240710
RGD:8554872
RGD:12791265

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      ectodermal dysplasia 251
        hypohidrotic ectodermal dysplasia 13
          Anhidrotic Ectodermal Dysplasia 1 + 2
          Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant 1
          Ectodermal Dysplasia 15, Hypohidrotic/Hair Type 1
          Ectodermal Dysplasia 3, Anhidrotic 3
          Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia 0
          Hypohidrotic Ectodermal Dysplasia, Autosomal Recessive + 4
          Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
          Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency 2
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        sensory system disease 4697
          mouth disease 681
            tooth disease 241
              Tooth Abnormalities 112
                anodontia 37
                  hypohidrotic ectodermal dysplasia 13
                    Anhidrotic Ectodermal Dysplasia 1 + 2
                    Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant 1
                    Ectodermal Dysplasia 15, Hypohidrotic/Hair Type 1
                    Ectodermal Dysplasia 3, Anhidrotic 3
                    Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia 0
                    Hypohidrotic Ectodermal Dysplasia, Autosomal Recessive + 4
                    Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
                    Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency 2
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.