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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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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18080
      Freire-Maia Odontotrichomelic Syndrome 0
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32348
      nervous system disease 26239
        Neurologic Manifestations 15391
          sensory system disease 9738
            skin disease 4880
              Skin Abnormalities 1802
                ectodermal dysplasia 744
                  Freire-Maia Odontotrichomelic Syndrome 0
paths to the root