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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:Kapur Toriello Syndrome
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Accession:DOID:9001517 term browser browse the term
Synonyms:exact_synonym: Cleft lip palate, facial, eye, heart and intestinal anomalies;   Long columella with cleft lip-palate and eye, heart, and intestinal anomalies
 primary_id: MESH:C537008
 alt_id: OMIM:244300



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Kapur Toriello Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Kapur-Toriello syndrome ClinVar PMID:25741868 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Kapur Toriello Syndrome 1
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 lip 59
                      Kapur Toriello Syndrome 1
paths to the root