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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 the EDARADD gene on chromosome 1q42-q43. (DO)
Synonyms:exact_synonym: ECTD11B;   ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
 primary_id: MIM:614941

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ectodermal dysplasia 11B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 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 11B, hypohidrotic/hair/tooth type, autosomal recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM
ClinVar		 PMID:9245989 PMID:11212737 PMID:11780064 PMID:17354266 PMID:25741868 More... NCBI chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999 		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 11B 3
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 11B 3
paths to the root