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RGD uses the Human Disease Ontology (DO, 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:Cleft Palate with Ankyloglossia
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Accession:DOID:9000786 term browser browse the term
Synonyms:primary_id: MESH:C564442;   RDO:0013406
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
Cleft Palate with Ankyloglossia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx22 T-box transcription factor 22 ISO ClinVar Annotator: match by null ClinVar PMID:2563678, PMID:11559848, PMID:12374769, PMID:14729838, PMID:22784330 NCBI chr  X:78,731,738...78,782,542
Ensembl chr  X:78,769,419...78,782,542
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Stomatognathic Diseases 981
      mouth disease 754
        tongue disease 89
          Cleft Palate with Ankyloglossia 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Craniofacial Abnormalities 1459
              Maxillofacial Abnormalities 239
                Jaw Abnormalities 228
                  orofacial cleft 125
                    cleft palate 96
                      Cleft Palate with Ankyloglossia 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.