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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 1
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Accession:DOID:0111460 term browser browse the term
Definition:A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. (DO)
Synonyms:exact_synonym: CFC1
 primary_id: OMIM:115150



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cardiofaciocutaneous syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar
OMIM
PMID:2102266 PMID:2500657 PMID:2851224 PMID:3265306 PMID:4386970 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:8234268 PMID:17056636 PMID:18958496 PMID:21784453 PMID:24033266 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LOC126860202 BRD4-independent group 4 enhancer GRCh37_chr7:140493623-140494822 IAGP ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:24920063 PMID:25741868 PMID:28492532 NCBI chr 7:140,793,823...140,795,022 JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:17366577 PMID:24719372 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    Developmental Disease 36035
      congenital heart disease 1890
        cardiofaciocutaneous syndrome 9
          cardiofaciocutaneous syndrome 1 4
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      nervous system disease 25939
        Neurologic Manifestations 15118
          sensory system disease 9679
            skin disease 4862
              Genetic Skin Diseases 2461
                ectodermal dysplasia 739
                  cardiofaciocutaneous syndrome 9
                    cardiofaciocutaneous syndrome 1 4
paths to the root