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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:orofaciodigital syndrome VII
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Accession:DOID:0060377 term browser browse the term
Definition:An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance. (DO)
Synonyms:exact_synonym: OFD7;   OFDS VII;   Whelan syndrome;   oral-facial-digital syndrome, type VII;   orofaciodigital syndrome 7
 primary_id: MESH:C563104
 alt_id: OMIM:608518
 xref: ORDO:90649


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      orofaciodigital syndrome 31
        orofaciodigital syndrome VII 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Skin and Connective Tissue Diseases 7431
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2304
              dysostosis 577
                orofaciodigital syndrome 31
                  orofaciodigital syndrome VII 0
paths to the root