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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:orofacial cleft 6
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Accession:DOID:0080593 term browser browse the term
Definition:An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32. (DO)
Synonyms:exact_synonym: OFC6
 related_synonym: nonsyndromic cleft lip with or without cleft palate 6;   orofacial cleft 6, susceptibility to
 primary_id: OMIM:608864


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    physical disorder 4917
      orofacial cleft 153
        orofacial cleft 6 1
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        Congenital Abnormalities 7497
          Musculoskeletal Abnormalities 3270
            Craniofacial Abnormalities 2638
              Maxillofacial Abnormalities 310
                Jaw Abnormalities 262
                  orofacial cleft 153
                    orofacial cleft 6 1
paths to the root