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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:Cleft velum is 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;   RDO:0012446
 alt_id: OMIM:119570
 xref: ICD10CM:Q35.3;   ORDO:99772
For additional species annotation, visit the Alliance of Genome Resources.


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:25741868 NCBI chr 8:99,977,334...100,059,736
Ensembl chr 8:99,977,334...100,059,736
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISS OMIM:119570 MouseDO NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      orofacial cleft 124
        cleft palate 92
          cleft soft palate 2
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        Congenital Abnormalities 5180
          Musculoskeletal Abnormalities 2132
            Craniofacial Abnormalities 1855
              Maxillofacial Abnormalities 233
                Jaw Abnormalities 221
                  orofacial cleft 124
                    cleft palate 92
                      cleft soft palate 2
paths to the root