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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:ectodermal dysplasia 1
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Accession:DOID:0111664 term browser browse the term
Definition:A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1. (DO)
Synonyms:exact_synonym: CST syndrome;   CST syndromes;   Christ Siemens Touraine syndrome;   ECTD1;   ED1;   EDA;   EDA1;   HED1;   X-linked anhidrotic ectodermal dysplasia;   X-linked anhydrotic ectodermal dysplasia;   X-linked ectodermal dysplasia 1, hypohidrotic/hair/tooth type;   X-linked hypohidrotic ectodermal dysplasia;   X-linked hypohidrotic ectodermal dysplasia 1;   X-linked hypohydridic ectodermal dysplasia;   XHED;   XLHED;   anhidrotic ectodermal dysplasia 1;   anhydrotic ectodermal dysplasia 1;   hypohidrotic ectodermal dysplasia 1
 xref: MESH:D053358;   MIM:305100;   MONDO:0010585;   OMIA:000543;   ORDO:181

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ectodermal dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia OMIM
ClinVar		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... NCBI chrNW_004936777:1,545,293...1,561,109
Ensembl chrNW_004936777:1,238,272...1,557,410 		JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chrNW_004936635:1,303,855...1,335,766
Ensembl chrNW_004936635:1,303,858...1,337,868 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chrNW_004936769:1,274,595...1,295,186
Ensembl chrNW_004936769:1,274,540...1,298,178 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14655
    syndrome 10040
      ectodermal dysplasia 514
        hypohidrotic ectodermal dysplasia 25
          ectodermal dysplasia 1 3
            X-Linked Hypodontia 0
Path 2
Term Annotations click to browse term
  disease 14655
    Pathological Conditions, Signs and Symptoms 11591
      Signs and Symptoms 9717
        Neurologic Manifestations 9410
          sensory system disease 6655
            mouth disease 959
              tooth disease 431
                Tooth Abnormalities 288
                  tooth agenesis 82
                    anodontia 72
                      hypohidrotic ectodermal dysplasia 25
                        ectodermal dysplasia 1 3
                          X-Linked Hypodontia 0
paths to the root