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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 4
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Accession:DOID:0080398 term browser browse the term
Definition:An orofacial cleft that has_material_basis_in variation in the 4q21-q31 chromosomal region. (DO)
Synonyms:exact_synonym: OFC4;   nonsyndromic cleft lip with or without cleft palate 4
 primary_id: MESH:C564251
 alt_id: OMIM:608371


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      orofacial cleft 155
        orofacial cleft 4 0
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        Congenital Abnormalities 7569
          Musculoskeletal Abnormalities 3288
            Craniofacial Abnormalities 2640
              Maxillofacial Abnormalities 309
                Jaw Abnormalities 263
                  orofacial cleft 155
                    orofacial cleft 4 0
paths to the root