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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:Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia
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Accession:DOID:9004741 term browser browse the term
Synonyms:exact_synonym: Hedh Syndrome
 primary_id: MESH:C565604
 alt_id: MIM:225050



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    syndrome 11377
      hypothyroidism 341
        Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia 0
Path 2
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      nervous system disease 14362
        Neurologic Manifestations 10451
          sensory system disease 7373
            mouth disease 1047
              tooth disease 468
                Tooth Abnormalities 300
                  anodontia 77
                    hypohidrotic ectodermal dysplasia 28
                      Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia 0
paths to the root