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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: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.


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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 16023
    Stomatognathic Diseases 1001
      mouth disease 770
        tongue disease 89
          Cleft Palate with Ankyloglossia 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        Congenital Abnormalities 4785
          Musculoskeletal Abnormalities 1777
            Craniofacial Abnormalities 1475
              Maxillofacial Abnormalities 248
                Jaw Abnormalities 236
                  orofacial cleft 131
                    cleft palate 100
                      Cleft Palate with Ankyloglossia 1
paths to the root

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