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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:cardiofaciocutaneous syndrome 2
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Accession:DOID:0111461 term browser browse the term
Definition:A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene on chromosome 12p12.1. (DO)
Synonyms:exact_synonym: CFC2
 primary_id: OMIM:615278


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      congenital heart disease 1321
        cardiofaciocutaneous syndrome 8
          cardiofaciocutaneous syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        Neurologic Manifestations 9419
          sensory system disease 6506
            skin disease 3704
              Genetic Skin Diseases 1779
                ectodermal dysplasia 523
                  cardiofaciocutaneous syndrome 8
                    cardiofaciocutaneous syndrome 2 1
paths to the root