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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 soft palate
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Accession:DOID:0110214 term browser browse the term
Definition:A cleft palate that is characterized as a fissure type embryopathy that affects in varying degrees the soft palate. (DO)
Synonyms:exact_synonym: cleft velum;   cleft velum palatinum
 primary_id: MESH:C562950
 alt_id: OMIM:119570
 xref: ICD10CM:Q35.3;   ORDO:99772


show annotations for term's descendants           Sort by:
cleft soft palate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Cleft soft palate ClinVar PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 More... NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISS OMIM:119570 MouseDO NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      orofacial cleft 155
        cleft palate 116
          cleft soft palate 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        Congenital Abnormalities 7569
          Musculoskeletal Abnormalities 3288
            Craniofacial Abnormalities 2640
              Maxillofacial Abnormalities 309
                Jaw Abnormalities 263
                  orofacial cleft 155
                    cleft palate 116
                      cleft soft palate 2
paths to the root