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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 X-linked | 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 18969
    syndrome 10888
      orofacial cleft 155
        cleft palate 116
          X-linked cleft palate with or without ankyloglossia 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        Congenital Abnormalities 7578
          Musculoskeletal Abnormalities 3302
            Craniofacial Abnormalities 2657
              Maxillofacial Abnormalities 309
                Jaw Abnormalities 263
                  orofacial cleft 155
                    cleft palate 116
                      X-linked cleft palate with or without ankyloglossia 1
paths to the root