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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 11B
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Accession:DOID:0111654 term browser browse the term
Definition:A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in EDARADD on chromosome 1q42-q43. (DO)
Synonyms:exact_synonym: ECTD11B;   ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
 primary_id: OMIM:614941
For additional species annotation, visit the Alliance of Genome Resources.


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ectodermal dysplasia 11B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR-associated death domain ISO ClinVar Annotator: match by OMIM:614941 OMIM
ClinVar
PMID:9245989, PMID:11780064, PMID:17354266, PMID:26991760 NCBI chr17:90,802,280...90,843,476
Ensembl chr17:90,802,393...90,843,485
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      ectodermal dysplasia 250
        hypohidrotic ectodermal dysplasia 14
          ectodermal dysplasia 11B 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          mouth disease 750
            tooth disease 279
              Tooth Abnormalities 148
                anodontia 40
                  hypohidrotic ectodermal dysplasia 14
                    ectodermal dysplasia 11B 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.