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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 7
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Accession:DOID:0111660 term browser browse the term
Definition:A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in KRT74 on chromosome 12q13.13. (DO)
Synonyms:exact_synonym: ECTD7;   ectodermal dysplasia 7, hair/nail type
 primary_id: OMIM:614929
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 16108
    syndrome 6992
      ectodermal dysplasia 250
        pure hair and nail ectodermal dysplasia 2
          ectodermal dysplasia 7 0
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          skin disease 2749
            Genetic Skin Diseases 887
              ectodermal dysplasia 250
                pure hair and nail ectodermal dysplasia 2
                  ectodermal dysplasia 7 0
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.