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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 11
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Accession:DOID:0080404 term browser browse the term
Definition:An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22. (DO)
Synonyms:exact_synonym: OFC11;   nonsyndromic cleft lip with or without cleft palate 11
 narrow_synonym: CHCL;   CONGENITAL HEALED CLEFT LIP
 broad_synonym: BMP4-RELATED CONDITION
 primary_id: MESH:C567410
 alt_id: MIM:600625



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orofacial cleft 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: BMP4-related condition | ClinVar Annotator: match by term: CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 11 | ClinVar Annotator: match by term: Orofacial cleft 11
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12404109 PMID:18252212 PMID:18305125 PMID:18771417 PMID:19249007 More... NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    physical disorder 5183
      orofacial cleft 157
        orofacial cleft 11 1
Path 2
Term Annotations click to browse term
  disease 19076
    Developmental Disease 14561
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13608
        Congenital Abnormalities 7748
          Musculoskeletal Abnormalities 3418
            Craniofacial Abnormalities 2748
              Maxillofacial Abnormalities 312
                Jaw Abnormalities 266
                  orofacial cleft 157
                    orofacial cleft 11 1
paths to the root