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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
 primary_id: MESH:D053358
 alt_id: OMIA:000543;   OMIM:305100
 xref: 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia		 OMIM
CTD
ClinVar
RGD		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:1598881 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172 		JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:62,224,763...62,269,333
Ensembl chr  X:62,228,229...62,269,268 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      ectodermal dysplasia 542
        hypohidrotic ectodermal dysplasia 28
          ectodermal dysplasia 1 3
            X-Linked Hypodontia 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            mouth disease 1018
              tooth disease 446
                Tooth Abnormalities 284
                  anodontia 75
                    hypohidrotic ectodermal dysplasia 28
                      ectodermal dysplasia 1 3
                        X-Linked Hypodontia 0
paths to the root