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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 16058
    syndrome 6996
      orofacial cleft 125
        cleft palate 96
          X-linked cleft palate with or without ankyloglossia 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Craniofacial Abnormalities 1459
              Maxillofacial Abnormalities 239
                Jaw Abnormalities 228
                  orofacial cleft 125
                    cleft palate 96
                      X-linked cleft palate with or without 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.