Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:cardiofaciocutaneous syndrome 1
go back to main search page
Accession:DOID:0111460 term browser browse the term
Definition:A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in BRAF on chromosome 7q34. (DO)
Synonyms:exact_synonym: CFC1
 primary_id: OMIM:115150
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
cardiofaciocutaneous syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
RGD:7240710
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:8554872
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      cardiofaciocutaneous syndrome 8
        cardiofaciocutaneous syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        sensory system disease 4697
          skin disease 2464
            Genetic Skin Diseases 760
              ectodermal dysplasia 251
                cardiofaciocutaneous syndrome 8
                  cardiofaciocutaneous syndrome 1 3
paths to the root

NHLBI Logo

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