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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, PMID:16825433, PMID:17056636, PMID:17551339, PMID:17601930, PMID:17704260, PMID:17875937, PMID:17875939, PMID:18386799, PMID:18456719, PMID:19467855, PMID:20949621, PMID:21062266, PMID:21063026, PMID:21079152, PMID:21396583, PMID:21784453, PMID:21797849, PMID:21871821, PMID:23059812, PMID:24033266, PMID:24240292, PMID:24703799, PMID:24803665, PMID:25180280, PMID:25326637, PMID:25644510, PMID:25741868, PMID:26242988, PMID:26249544, PMID:28492532, PMID:28650561 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      ectodermal dysplasia 250
        cardiofaciocutaneous syndrome 7
          cardiofaciocutaneous syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        sensory system disease 5163
          skin disease 2751
            Genetic Skin Diseases 887
              ectodermal dysplasia 250
                cardiofaciocutaneous syndrome 7
                  cardiofaciocutaneous syndrome 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.