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;   anhidrotic ectodermal dysplasia 3;   hypohidrotic X-linked ectodermal dysplasia
 primary_id: RDO:9004253
 xref: GARD:76;   OMIM:PS300291
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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: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:8554872
RGD:13592920
G Edaradd EDAR-associated death domain JBrowse link 17 90,802,280 90,843,476 RGD:13592920
RGD:8554872
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 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 1, Anhidrotic 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
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 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 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 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 14823
    syndrome 4218
      ectodermal dysplasia 142
        hypohidrotic ectodermal dysplasia 9
          Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant 1
          Ectodermal Dysplasia 1, Anhidrotic + 2
          Ectodermal Dysplasia 3, Anhidrotic 3
          Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia 0
          Hypohidrotic Ectodermal Dysplasia, Autosomal Recessive + 3
          Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
          Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          skin disease 2253
            Genetic Skin Diseases 580
              ectodermal dysplasia 142
                hypohidrotic ectodermal dysplasia 9
                  Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant 1
                  Ectodermal Dysplasia 1, Anhidrotic + 2
                  Ectodermal Dysplasia 3, Anhidrotic 3
                  Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia 0
                  Hypohidrotic Ectodermal Dysplasia, Autosomal Recessive + 3
                  Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
                  Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency 1
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.