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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:X-linked cleft palate with or without ankyloglossia
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Accession:DOID:0060613 term browser browse the term
Definition:A cleft palate that has_material_basis in mutation in the TBX22 gene on chromosome Xq21. (DO)
Synonyms:exact_synonym: CPX;   X-linked cleft palate and ankyloglossia;   cleft palate, X-linked
 primary_id: MESH:C536426
 alt_id: OMIM:303400;   RDO:0002021
 xref: ORDO:324601
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked cleft palate with or without 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 OMIM:303400
ClinVar Annotator: match by term: Cleft palate X-linked
OMIM
ClinVar
PMID:14729838 PMID:16247549 PMID:17868388 PMID:25741868 PMID:28492532 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 16122
    syndrome 7057
      orofacial cleft 124
        cleft palate 92
          X-linked cleft palate with or without ankyloglossia 1
Path 2
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        Congenital Abnormalities 4762
          Musculoskeletal Abnormalities 1684
            Craniofacial Abnormalities 1418
              Maxillofacial Abnormalities 233
                Jaw Abnormalities 221
                  orofacial cleft 124
                    cleft palate 92
                      X-linked cleft palate with or without ankyloglossia 1
paths to the root