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ONTOLOGY REPORT - ANNOTATIONS


Term:cardiofaciocutaneous syndrome 3
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Accession:DOID:0111462 term browser browse the term
Definition:A complex developmental disorder involving macrostomia and horizontal shape of palpebral fissures. (OMIM)
Synonyms:exact_synonym: CFC3
 primary_id: OMIM:615279
For additional species annotation, visit the Alliance of Genome Resources.


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cardiofaciocutaneous syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    syndrome 5228
      cardiofaciocutaneous syndrome 8
        cardiofaciocutaneous syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 0
    Developmental Diseases 8822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7612
        genetic disease 7095
          monogenic disease 4789
            autosomal genetic disease 3769
              autosomal dominant disease 2311
                ectodermal dysplasia 225
                  cardiofaciocutaneous syndrome 8
                    cardiofaciocutaneous syndrome 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.