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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 13
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Accession:DOID:0111650 term browser browse the term
Definition:An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in KREMEN1 on chromosome 22q12.1. (DO)
Synonyms:exact_synonym: ECTD13;   ectodermal dysplasia 13, hair/tooth type
 primary_id: OMIM:617392
For additional species annotation, visit the Alliance of Genome Resources.



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ectodermal dysplasia 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kremen1 kringle containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type ClinVar
OMIM
PMID:27049303 NCBI chr14:80,081,870...80,147,489
Ensembl chr14:80,084,403...80,147,516
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      ectodermal dysplasia 414
        ectodermal dysplasia 13 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                ectodermal dysplasia 13 1
paths to the root