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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 KRAS on chromosome 12p12.1. (DO)
Synonyms:exact_synonym: CFC2
 primary_id: OMIM:615278
For additional species annotation, visit the Alliance of Genome Resources.



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cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by OMIM:615278
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2
OMIM
ClinVar
PMID:7877967 PMID:8246952 PMID:16474404 PMID:16474405 PMID:16773572 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      congenital heart disease 1083
        cardiofaciocutaneous syndrome 8
          cardiofaciocutaneous syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      nervous system disease 12140
        sensory system disease 5664
          skin disease 2978
            Skin Abnormalities 768
              ectodermal dysplasia 386
                cardiofaciocutaneous syndrome 8
                  cardiofaciocutaneous syndrome 2 1
paths to the root