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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;   X-linked cleft palate and ankyloglossia
 primary_id: MESH:C536426
 alt_id: OMIM:303400
 xref: ORDO:324601



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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
ISS
ClinVar Annotator: match by term: Cleft palate with or without ankyloglossia, X-linked
CTD Direct Evidence: marker/mechanism
OMIM:303400
OMIM
ClinVar
CTD
MouseDO
PMID:839509 PMID:14729838 PMID:16247549 PMID:17868388 PMID:22784330 More... NCBI chr  X:72,723,619...72,774,647
Ensembl chr  X:72,723,617...72,774,647
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21140
    syndrome 10749
      orofacial cleft 154
        cleft palate 116
          X-linked cleft palate with or without ankyloglossia 1
Path 2
Term Annotations click to browse term
  disease 21140
    Developmental Disease 18459
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18320
        Congenital Abnormalities 7478
          Musculoskeletal Abnormalities 3251
            Craniofacial Abnormalities 2595
              Maxillofacial Abnormalities 304
                Jaw Abnormalities 258
                  orofacial cleft 154
                    cleft palate 116
                      X-linked cleft palate with or without ankyloglossia 1
paths to the root