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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_004624749:11,981,782...11,998,933
Ensembl chrNW_004624749:11,983,550...11,998,918 		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_004624775:14,132,455...14,191,604
Ensembl chrNW_004624775:14,132,710...14,191,423 		JBrowse link
G LOC101698338 E3 SUMO-protein ligase RanBP2 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_004624749:11,862,670...11,923,291
Ensembl chrNW_004624749:11,862,760...11,923,958 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14170
    syndrome 9558
      ectodermal dysplasia 508
        hypohidrotic ectodermal dysplasia 22
          ectodermal dysplasia 11B 3
Path 2
Term Annotations click to browse term
  disease 14170
    disease of anatomical entity 13885
      nervous system disease 12195
        Neurologic Manifestations 9072
          sensory system disease 6424
            mouth disease 935
              tooth disease 424
                Tooth Abnormalities 278
                  anodontia 67
                    hypohidrotic ectodermal dysplasia 22
                      ectodermal dysplasia 11B 3
paths to the root