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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 10A
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Accession:DOID:0111663 term browser browse the term
Definition:A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDAR gene on chromosome 2q13. (DO)
Synonyms:exact_synonym: AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA;   AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA SYNDROME;   ECTD10A;   ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;   HED;   anhidrotic ectodermal dysplasia 3;   autosomal dominant ectodermal dysplasia 10A, hypohidrotic/hair/tooth type;   autosomal dominant ectodermal dysplasia-10A
 primary_id: MESH:D053359
 alt_id: MIM:129490

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ectodermal dysplasia 10A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936829:335,977...397,252
Ensembl chrNW_004936829:335,967...397,235 		JBrowse link
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... NCBI chrNW_004936829:429,667...458,943
Ensembl chrNW_004936829:429,561...458,943 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 PMID:25741868 NCBI chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936829:13,235...61,556
Ensembl chrNW_004936829:13,229...62,510 		JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936829:187,234...240,213 JBrowse link
G LOC101970597 sulfotransferase 1C1 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936729:1,783,124...1,796,723
Ensembl chrNW_004936729:1,783,105...1,796,740 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant ClinVar PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... NCBI chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936729:1,511,648...1,534,042
Ensembl chrNW_004936729:1,511,836...1,536,200 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14645
    syndrome 10006
      ectodermal dysplasia 520
        hypohidrotic ectodermal dysplasia 25
          ectodermal dysplasia 10A 8
Path 2
Term Annotations click to browse term
  disease 14645
    Pathological Conditions, Signs and Symptoms 11572
      Signs and Symptoms 9717
        Neurologic Manifestations 9410
          sensory system disease 6656
            mouth disease 956
              tooth disease 430
                Tooth Abnormalities 287
                  tooth agenesis 82
                    anodontia 72
                      hypohidrotic ectodermal dysplasia 25
                        ectodermal dysplasia 10A 8
paths to the root