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RGD uses the Human Disease Ontology (DO, 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 4
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Accession:DOID:0111463 term browser browse the term
Definition:A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in MAPK2K2 on chromosome 19p13.3. (DO)
Synonyms:exact_synonym: CFC4
 primary_id: OMIM:615280
For additional species annotation, visit the Alliance of Genome Resources.

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cardiofaciocutaneous syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 OMIM
PMID:16439621 PMID:17366577 PMID:17981815 PMID:18042262 PMID:18413255 More... NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      congenital heart disease 1088
        cardiofaciocutaneous syndrome 8
          cardiofaciocutaneous syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          skin disease 2993
            Skin Abnormalities 768
              ectodermal dysplasia 386
                cardiofaciocutaneous syndrome 8
                  cardiofaciocutaneous syndrome 4 1
paths to the root