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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 the KRT74 gene on chromosome 12q13.13. (DO)
Synonyms:exact_synonym: ECTD7;   ectodermal dysplasia 7, hair/nail type
 primary_id: OMIM:614929


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Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      ectodermal dysplasia 542
        pure hair and nail ectodermal dysplasia 2
          ectodermal dysplasia 7 0
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Signs and Symptoms 10819
        Neurologic Manifestations 10053
          sensory system disease 6962
            skin disease 3969
              Skin Abnormalities 1298
                ectodermal dysplasia 542
                  pure hair and nail ectodermal dysplasia 2
                    ectodermal dysplasia 7 0
paths to the root