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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: MIM: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 chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      Kapur Toriello Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        Congenital Abnormalities 7894
          Musculoskeletal Abnormalities 3458
            Craniofacial Abnormalities 2781
              Maxillofacial Abnormalities 316
                Jaw Abnormalities 270
                  orofacial cleft 161
                    cleft lip 61
                      Kapur Toriello Syndrome 1
paths to the root