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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, Alopecia, Preaxial Polydactyly
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Accession:DOID:9007968 term browser browse the term
Synonyms:exact_synonym: Absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance
 primary_id: MESH:C538016
 alt_id: RDO:0003951
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      ectodermal dysplasia 385
        Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 0
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        Congenital Abnormalities 5555
          Musculoskeletal Abnormalities 2219
            Congenital Limb Deformities 455
              polydactyly 120
                Preaxial Polydactyly 7
                  Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 0
paths to the root