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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:Freire-Maia Odontotrichomelic Syndrome
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Accession:DOID:9007270 term browser browse the term
Synonyms:exact_synonym: Odontotrichomelic hypohidrotic dysplasia;   TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES
 primary_id: MESH:C535637
 alt_id: OMIM:273400

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Path 1
Term Annotations click to browse term
  disease 15960
    syndrome 9252
      Freire-Maia Odontotrichomelic Syndrome 0
Path 2
Term Annotations click to browse term
  disease 15960
    disease of anatomical entity 13727
      nervous system disease 12009
        Neurologic Manifestations 8801
          sensory system disease 6144
            skin disease 3487
              Skin Abnormalities 1196
                ectodermal dysplasia 502
                  Freire-Maia Odontotrichomelic Syndrome 0
paths to the root