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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:8696334 PMID:9507389 PMID:9630076 PMID:9683615 PMID:9736768 PMID:9856856 PMID:10951256 PMID:11279189 PMID:11295832 PMID:11309369 PMID:11378824 PMID:11416205 PMID:12949972 PMID:14656435 PMID:15461765 PMID:15663448 PMID:16199547 PMID:17066260 PMID:17970812 PMID:18076698 PMID:18231121 PMID:18384562 PMID:18386312 PMID:18427821 PMID:18451855 PMID:18510547 PMID:18545687 PMID:18657636 PMID:18666859 PMID:18821982 PMID:19278982 PMID:19533796 PMID:19592680 PMID:19623212 PMID:19921643 PMID:20236127 PMID:20374512 PMID:20486090 PMID:20979233 PMID:21357618 PMID:21457804 PMID:22032522 PMID:22382802 PMID:22428923 PMID:22875504 PMID:23293949 PMID:23553579 PMID:23744313 PMID:23926003 PMID:23989902 PMID:23991204 PMID:24033266 PMID:24279917 PMID:24312213 PMID:24330993 PMID:24487376 PMID:24648697 PMID:24689965 PMID:24724966 PMID:25333067 PMID:25626993 PMID:25741868 PMID:26273176 PMID:26634545 PMID:26753551 PMID:27054699 PMID:27144394 PMID:27305980 PMID:27538153 PMID:27657131 PMID:28045201 PMID:28492532 PMID:31306530, PMID:8696334 RGD:1598881 NCBI chr  X:65,078,454...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...62,269,344 JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:25741868 PMID:28492532 NCBI chr20:26,587,836...26,666,543 JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:17847007 PMID:19559398 PMID:21484994 PMID:22581971 PMID:23401279 PMID:24033266 PMID:24449199 PMID:24700731 PMID:25629078 PMID:25741868 PMID:26964878 PMID:27881089 PMID:28166811 PMID:28492532 PMID:28813618 PMID:28976000 PMID:29364747 PMID:30426266 PMID:30974434 NCBI chr 9:76,349,931...76,362,400 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17160
    syndrome 8040
      ectodermal dysplasia 385
        hypohidrotic ectodermal dysplasia 15
          ectodermal dysplasia 1 4
            X-Linked Hypodontia 0
Path 2
Term Annotations click to browse term
  disease 17160
    disease of anatomical entity 16500
      nervous system disease 12095
        sensory system disease 5603
          mouth disease 776
            tooth disease 297
              Tooth Abnormalities 156
                anodontia 42
                  hypohidrotic ectodermal dysplasia 15
                    ectodermal dysplasia 1 4
                      X-Linked Hypodontia 0
paths to the root