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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 2
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Accession:DOID:0080396 term browser browse the term
Definition:An orofacial cleft that has_material_basis_in variation in the chromosome region 2p13. (DO)
Synonyms:exact_synonym: OFC2;   nonsyndromic cleft lip with or without cleft palate 2
 primary_id: MESH:C566419
 alt_id: OMIM:602966


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      orofacial cleft 155
        orofacial cleft 2 0
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Congenital Abnormalities 7583
          Musculoskeletal Abnormalities 3302
            Craniofacial Abnormalities 2657
              Maxillofacial Abnormalities 309
                Jaw Abnormalities 263
                  orofacial cleft 155
                    orofacial cleft 2 0
paths to the root